AnatomyDiseasesAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesDisciplines and OccupationsHealth Care
MosaicismSex Chromosome AberrationsTrisomyTurner SyndromeGonadal Dysgenesis, MixedKaryotypingChromosome DisordersPigmentation DisordersUniparental DisomyCryopyrin-Associated Periodic SyndromesAneuploidyChromosome AberrationsChromosomes, Human, XIn Situ Hybridization, FluorescencePedigreeAbnormalities, MultipleEpidermolysis BullosaNeurofibromatosis 2X ChromosomeRing ChromosomesChorionic Villi SamplingKlinefelter SyndromeGenetic CounselingPrenatal DiagnosisY ChromosomePreimplantation DiagnosisChromosome BandingGonadal DysgenesisGerm-Line MutationPhenotypeChromosomes, Human, 21-22 and YIntellectual DisabilitySyndromeChromosomes, Human, 13-15Chromosomes, Human, Y
Mosaicism
The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
Sex Chromosome Aberrations
Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT.
Trisomy
The possession of a third chromosome of any one type in an otherwise diploid cell.
Turner Syndrome
A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.
Gonadal Dysgenesis, Mixed
A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,XX; 45,X/46,XX/47,XXX; 46,XXp-; 45,X/46,XY; 45,X/47,XYY; 46,XYpi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,XX or 46,XY constitution.
Karyotyping
Mapping of the KARYOTYPE of a cell.
Chromosome Disorders
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
Pigmentation Disorders
Uniparental Disomy
The presence in a cell of two paired chromosomes from the same parent, with no chromosome of that pair from the other parent. This chromosome composition stems from non-disjunction (NONDISJUNCTION, GENETIC) events during MEIOSIS. The disomy may be composed of both homologous chromosomes from one parent (heterodisomy) or a duplicate of one chromosome (isodisomy).
Cryopyrin-Associated Periodic Syndromes
A group of rare autosomal dominant diseases, commonly characterized by atypical URTICARIA (hives) with systemic symptoms that develop into end-organ damage. The atypical hives do not involve T-cell or autoantibody. Cryopyrin-associated periodic syndrome includes three previously distinct disorders: Familial cold autoinflammatory syndrome; Muckle-Wells Syndrome; and CINCA Syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 protein mutations.
Aneuploidy
The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).
Chromosome Aberrations
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
Chromosomes, Human, X
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
In Situ Hybridization, Fluorescence
A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.
Pedigree
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Abnormalities, Multiple
Epidermolysis Bullosa
Group of genetically determined disorders characterized by the blistering of skin and mucosae. There are four major forms: acquired, simple, junctional, and dystrophic. Each of the latter three has several varieties.
Neurofibromatosis 2
An autosomal dominant disorder characterized by a high incidence of bilateral acoustic neuromas as well as schwannomas (NEURILEMMOMA) of other cranial and peripheral nerves, and other benign intracranial tumors including meningiomas, ependymomas, spinal neurofibromas, and gliomas. The disease has been linked to mutations of the NF2 gene (GENES, NEUROFIBROMATOSIS 2) on chromosome 22 (22q12) and usually presents clinically in the first or second decade of life.
X Chromosome
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
Ring Chromosomes
Aberrant chromosomes with no ends, i.e., circular.
Chorionic Villi Sampling
A method for diagnosis of fetal diseases by sampling the cells of the placental chorionic villi for DNA analysis, presence of bacteria, concentration of metabolites, etc. The advantage over amniocentesis is that the procedure can be carried out in the first trimester.
Klinefelter Syndrome
A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).
Genetic Counseling
An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered.
Prenatal Diagnosis
Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.
Y Chromosome
The male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans and in some other male-heterogametic species in which the homologue of the X chromosome has been retained.
Preimplantation Diagnosis
Determination of the nature of a pathological condition or disease in the OVUM; ZYGOTE; or BLASTOCYST prior to implantation. CYTOGENETIC ANALYSIS is performed to determine the presence or absence of genetic disease.
Chromosome Banding
Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.
Gonadal Dysgenesis
A number of syndromes with defective gonadal developments such as streak GONADS and dysgenetic testes or ovaries. The spectrum of gonadal and sexual abnormalities is reflected in their varied sex chromosome (SEX CHROMOSOMES) constitution as shown by the karyotypes of 45,X monosomy (TURNER SYNDROME); 46,XX (GONADAL DYSGENESIS, 46XX); 46,XY (GONADAL DYSGENESIS, 46,XY); and sex chromosome MOSAICISM; (GONADAL DYSGENESIS, MIXED). Their phenotypes range from female, through ambiguous, to male. This concept includes gonadal agenesis.
Germ-Line Mutation
Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not.
Phenotype
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Chromosomes, Human, 21-22 and Y
The short, acrocentric human chromosomes, called group G in the human chromosome classification. This group consists of chromosome pairs 21 and 22 and the Y chromosome.
Intellectual Disability
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
Syndrome
A characteristic symptom complex.
Chromosomes, Human, 13-15
The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.
Chromosomes, Human, Y
The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.

Comparative analysis of cell distribution in the pigment epithelium and the visual cell layer of chimaeric mice. (1/1468)

In chimaeras of both rdrdCC in equilibrium ++ cc and rdrdcc in equilibrium ++CC combinations two types of distribution were observed. In a majority of the chimaeras both retinal layers were chimaeric; whereas in a few cases the pigment epithelium was chimaeric but the visual cell layer was made of ++ cells only. No spatial relation was observed in the distribution of the cells in the two layers. The two eyes of the individuals were nearly always identical with regard to occurrence of chimaerism in the two layers. The findings are discussed in the light of the possible site and mode of expression of the rd gene.  (+info)

Analysis of spinocerebellar ataxia type 2 gene and haplotype analysis: (CCG)1-2 polymorphism and contribution to founder effect. (2/1468)

Spinocerebellar ataxia type 2 is a familial spinocerebellar ataxia with autosomal dominant inheritance. The gene responsible was recently cloned and this disorder was found to be the result of a CAG expansion in its open reading frame. We analysed 13 SCA2 patients in seven unrelated families in Gunma Prefecture, Japan. In four of the seven families, we detected CCG or CCGCCG interruptions in only the expanded alleles. Cosegregation of these polymorphisms with SCA2 patients was established within each family. Together with the results of haplotype analyses, we considered that at least two founders were present in our area and that these (CCG)1-2 polymorphisms may make analysis of founder effects easier. By sequencing analysis we found that although the number of the long CAG repeat varied in each subclone of expanded alleles, these polymorphisms did not change their configuration. This finding suggests that CCG or CCGCCG sequences are stable when surrounded by the long CAG repeat and a single CAG. Moreover, the presence of these polymorphisms may lead to miscounting the repeat size by conventional estimation using a size marker such as an M13 sequencing ladder. Therefore we should consider these polymorphisms and accurately determine the repeat size by sequencing.  (+info)

Dual role of extramacrochaetae in cell proliferation and cell differentiation during wing morphogenesis in Drosophila. (3/1468)

The Extramacrochaetae (emc) gene encodes a transcription factor with an HLH domain without the basic region involved in interaction with DNA present in other proteins that have this domain. EMC forms heterodimers with bHLH proteins preventing their binding to DNA, acting as a negative regulator. The function of emc is required in many developmental processes during the development of Drosophila, including wing morphogenesis. Mitotic recombination clones of both null and gain-of-function alleles of emc, indicate that during wing morphogenesis, emc participates in cell proliferation within the intervein regions (vein patterning), as well as in vein differentiation. The study of relationships between emc and different genes involved in wing development reveal strong genetic interactions with genes of the Ras signalling pathway (torpedo, vein, veinlet and Gap), blistered, plexus and net, in both adult wing phenotypes and cell behaviour in genetic mosaics. These interactions are also analyzed as variations of emc expression patterns in mutant backgrounds for these genes. In addition, cell proliferation behaviour of emc mutant cells varies depending on the mutant background. The results show that genes of the Ras signalling pathway are co-operatively involved in the activity of emc during cell proliferation, and later antagonistically during cell differentiation, repressing EMC expression.  (+info)

Germ-line mosaicism in tuberous sclerosis: how common? (4/1468)

Two-thirds of cases of tuberous sclerosis complex (TSC) are sporadic and usually are attributed to new mutations, but unaffected parents sometimes have more than one affected child. We sought to determine how many of these cases represent germ-line mosaicism, as has been reported for other genetic diseases. In our sample of 120 families with TSC, 7 families had two affected children and clinically unaffected parents. These families were tested for mutations in the TSC1 and TSC2 genes, by Southern blotting and by single-strand conformational analysis. Unique variants were detected in six families. Each variant was present and identical in both affected children of a family but was absent in both parents and the unaffected siblings. Sequencing of the variants yielded two frameshift mutations, one missense mutation, and two nonsense mutations in TSC2 and one nonsense mutation in TSC1. To determine which parent contributed the affected gametes, the families were analyzed for linkage to TSC1 and TSC2, by construction of haplotypes with markers flanking the two genes. Linkage analysis and loss-of-heterozygosity studies indicated maternal origin in three families, paternal origin in one family, and either being possible in two families. To evaluate the possibility of low-level somatic mosaicism for TSC, DNA from lymphocytes of members of the six families were tested by allele-specific PCR. In all the families, the mutant allele was detected only in the known affected individuals. We conclude that germ-line mosaicism was present in five families with mutations in the TSC2 gene and in one family with the causative mutation in the TSC1 gene. The results have implications for genetic counseling of families with seemingly sporadic TSC.  (+info)

Recurrence of Marfan syndrome as a result of parental germ-line mosaicism for an FBN1 mutation. (5/1468)

Mutations in the FBN1 gene cause Marfan syndrome (MFS), a dominantly inherited connective tissue disease. Almost all the identified FBN1mutations have been family specific, and the rate of new mutations is high. We report here a de novo FBN1mutation that was identified in two sisters with MFS born to clinically unaffected parents. The paternity and maternity were unequivocally confirmed by genotyping. Although one of the parents had to be an obligatory carrier for the mutation, we could not detect the mutation in the leukocyte DNA of either parent. To identify which parent was a mosaic for the mutation we analyzed several tissues from both parents, with a quantitative and sensitive solid-phase minisequencing method. The mutation was not, however, detectable in any of the analyzed tissues. Although the mutation could not be identified in a sperm sample from the father or in samples of multiple tissue from the mother, we concluded that the mother was the likely mosaic parent and that the mutation must have occurred during the early development of her germ-line cells. Mosaicism confined to germ-line cells has rarely been reported, and this report of mosaicism for the FBN1 mutation in MFS represents an important case, in light of the evaluation of the recurrence risk in genetic counseling of families with MFS.  (+info)

Chromosome abnormalities in human embryos. (6/1468)

The presence of numerical chromosome abnormalities in human embryos was studied using fluorescence in-situ hybridization with four or more chromosome-specific probes. When most cells of an embryo are analysed, this technique allows differentiation to be made between aneuploidy, mosaicism, haploidy and polyploidy. Abnormal types of fertilization, such as unipronucleated, tripronucleated zygotes and zygotes with uneven pronuclei, were studied using this technique. We have found a strong correlation between some types of dysmorphism with chromosomal abnormalities. In addition, the more impaired the development of an embryo, the more chromosomal abnormalities were detected in those embryos. Maternal age and other factors were linked to an increase in chromosome abnormalities (hormonal regimes, temperature changes), but not to intracytoplasmic sperm injection.  (+info)

Identification of mutations that cause cell migration defects in mosaic clones. (7/1468)

Cell movement is an important feature of animal development, wound healing and tumor metastasis; however, the mechanisms underlying cell motility remain to be elucidated. To further our understanding, it would be useful to identify all of the proteins that are essential for a cell to migrate, yet such information is not currently available for any cell type. We have carried out a screen for mutations affecting border cell migration in Drosophila. Mutations that cause defects in mosaic clones were identified, so that genes that are also required for viability could be detected. From 6000 mutagenized lines, 20 mutations on chromosome 2R were isolated that cause defects in border cell position. One of the mutations was dominant while all of the recessive mutations appeared to be homozygous lethal. This lethality was used to place the mutations into 16 complementation groups. Many of the mutations failed to complement cytologically characterized deficiencies, allowing their rapid mapping. Mutations in three loci altered expression of a marker gene in the border cells, whereas the remaining mutations did not. One mutation, which caused production of supernumerary border cells, was found to disrupt the costal-2 locus, indicating a role for Hedgehog signaling in border cell development. This screen identified many new loci required for border cell migration and our results suggest that this is a useful approach for elucidating the mechanisms involved in cell motility.  (+info)

Dicentric X isochromosomes in man. (8/1468)

Four cases of Turner's syndrome are presented in which an apparent X isochromosome i(Xq) has been found to possess two regions of centromeric heterochromatin. It is suggested that these chromosomes were isodicentric structures capable of functioning as monocentric elements as a result of the inactivation of one centromere. The prevalence of mosaicism is believed to be a consequence of the dicentric nature of these chromosomes, and it is considered possible that a high proportion of X isochromosmes are structurally dicentric. Banding patterns showed that the exchange site involved in the formation of the dicentric chromosome was different in at least three of the cases.  (+info)

Germline mosaicism - WikipediaGermline mosaicism - Wikipedia
Germline mosaicism, also called gonadal mosaicism, is a type of genetic mosaicism where more than one set of genetic information is found specifically within the gamete cells. Somatic mosaicism, a type of genetic mosaicism found in somatic cells, and germline mosaicism can be present at the same time or individually depending on when the conditions occur. When the mosaicism is only found in the gametes and not in any somatic cells, it is referred to as pure germline mosaicism. Germline mosaicism can be caused either by a mutation that occurs after conception, or by epigenetic regulation, alterations to DNA such as methylation that do not involve changes in the DNA coding sequence. A mutation in an allele acquired by a somatic cell early in its development can be passed on to its daughter cells, including those that later specialize to gametes. It can also be caused by a sporadic mutation in a gamete cell. If the germline mosaicism causing mutation occurs in the somatic cell, it never results in ...
https://en.wikipedia.org/wiki/Germline_mosaicism
Chromosomal mosaicism goes global | Molecular Cytogenetics | Full TextChromosomal mosaicism goes global | Molecular Cytogenetics | Full Text
The report that has inspired this communication addresses basic side of chromosome mosaicism research. However, Molecular Cytogenetics has published a series of original researches, which have paid attention to practical side of chromosomal mosaicism [31-36]. These have demonstrated that chromosomal mosaicism is an appreciable phenomenon frequently encountered in small supernumerary marker chromosomes (sSMC) research [31-33, 35]. Furthermore, it provided evidences that mosaic structural chromosome rearrangements are likely to occur more frequently, than previously recognized [4, 5, 34, 36]. In the light of studying sSMC, it should be additionally mentioned that chromosomal mosaicism could be cryptic [37, 38] and dynamic [39]. The former is referred to as occurrence of more complex mosaics than revealed after karyotyping [37]. The latter is the occurrence of new genetic imbalances from an already abnormal cell or mosaicism resulting from behavioral peculiarities of a rearranged chromosome [39]. ...
https://molecularcytogenetics.biomedcentral.com/articles/10.1186/1755-8166-1-26
Chromosomal mosaicism | Article about Chromosomal mosaicism by The Free DictionaryChromosomal mosaicism | Article about Chromosomal mosaicism by The Free Dictionary
Looking for Chromosomal mosaicism? Find out information about Chromosomal mosaicism. The coexistence of two or more genetically distinct cell populations derived originally from a single zygote. Mosaics may arise at any stage of development,... Explanation of Chromosomal mosaicism
https://encyclopedia2.thefreedictionary.com/Chromosomal+mosaicism
Detection of gonadal mosaicism in parents of offspring with Down syndromeDetection of gonadal mosaicism in parents of offspring with Down syndrome
The paper presents results of a revision of data of both conventional chromosome testing and a study of cytogenetic (QFQ) markers in families with Down syndrome. Retrospective analysis of 151 families found eight families with a carrier of gonadal mosaicism. In all cases, the mother was younger than 35 years old. Therefore a prevalence of parental mosaicism in young couples was estimated to be 6,5 % (8/123). Conventional diagnostic testing, not followed by analysis of segregation of QHQ markers, would have resulted in a prevalence of only 1 %. A comparison of the results of cytogenetic analysis with those expected using molecular polymorphisms suggests that cytogenetic testing cannot be entirely replaced by molecular testing. A combination of both methods should be applied when gonadal mosaicism is suspected.. ...
http://cytgen.com/en/2007/36-42N5V41.htm
The Stochastic Scientist: Genetic mosaicism may affect genome studiesThe Stochastic Scientist: Genetic mosaicism may affect genome studies
By the way, this study dealt with somatic mosaicism. The children with this condition had originated from a single fertilized egg and some of their cells had subsequently mutated. This is a common enough occurrence that some researchers believe we may all be somatic mosaics. Under rare circumstances, two fertilized eggs will fuse into one embryo (the reverse of identical twinning) and the resulting baby will have some cells that are derived from each of those eggs. ...
http://stochasticscientist.blogspot.com.au/2013/05/genetic-mosaicism-may-affect-genome.html
The Ethics of Mosaic Embryos | Adoption.comThe Ethics of Mosaic Embryos | Adoption.com
Mosaic embryos are similar to the healthy embryos that have always been used for in vitro fertilization (IVF), but mosaic embryos contain a mixture of both...
https://adoption.com/the-ethics-of-mosaic-embryos
Tiling resolution array-CGH shows that somatic mosaic deletion of the **EXT** gene is causative in **EXT** gene mutation...Tiling resolution array-CGH shows that somatic mosaic deletion of the **EXT** gene is causative in **EXT** gene mutation...
Multiple osteochondromas (MO) is a hereditary skeletal disorder characterized by the presence of cartilage capped bony outgrowths at bone surface. Causative mutations in EXT1 or EXT2 genes have been described in 85-90 % of MO cases. However, in about 10-15 % of the MO cases, genomic alterations can not be detected, implying the potential role of other alterations. We have designed a custom-made Agilent oligonucleotide-based microarray, containing 44,000 probes, with tiling coverage of EXT1/2 genes and addition of 68 genes involved in heparan sulfate biosynthesis and other related pathways. Out of the 17 patient samples with previously undetected mutations, a low level of deletion of the EXT1 gene in about 10-15% of the blood cells was detected in two patients and mosaic deletion of the EXT2 was detected in one patient. Here we show that for the first time somatic mosaicism with large genomic deletions as the underlying mechanism in MO formation was identified. We propose that the existence of ...
https://repository.uantwerpen.be/link/irua/88959
Frontiers | Modeling Brain Somatic Mosaicism with Cerebral Organoids, Including a Note on Mutant Microglia | Frontiers in...Frontiers | Modeling Brain Somatic Mosaicism with Cerebral Organoids, Including a Note on Mutant Microglia | Frontiers in...
The brain is a genomic mosaic. Cell-to-cell genomic differences, which are the result of somatic mutations during development and aging, contribute to cellular diversity in the nervous system. This genomic diversity has important implications for nervous system development, function, and disease. Brain somatic mosaicism might contribute to individualized behavioral phenotypes and has been associated with several neuropsychiatric and neurodegenerative disorders. Therefore, understanding the causes and consequences of somatic mosaicism in neural circuits is of great interest. Recent advances in 3D cell culture technology have provided new means to study human organ development and various human pathologies in vitro. Cerebral organoids (
https://www.frontiersin.org/articles/10.3389/fnmol.2019.00277/abstract
Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study - Semantic ScholarParental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study - Semantic Scholar
Knowledge about the parental origin of new mutations and the occurrence of germline mosaicism is important for estimating recurrence risks in Duchenne (DMD) and Becker muscular dystrophy (BMD). However, there are problems in resolving these issues partly because not all mutations can as yet be directly detected, and additionally because genetic ratios are very sensitive to ascertainment bias. In the present study, therefore, analysis was restricted to currently detectable mutations (deletions and duplications) in particular types of families which tend to be rare. In order to obtain sufficient data we pooled results from 25 European centers. In mothers of affected patients who were the first in their family with a dystrophin gene deletion or duplication, the ratio between the paternal and the maternal origin of this new mutation was 32:49 (binomial test P = 0.075) for DMD. In five BMD families the ratio between paternal and maternal origin of new mutations was 3∶2. Recurrence risk because of maternal
https://www.semanticscholar.org/paper/Parental-origin-and-germline-mosaicism-of-deletion-Essen-Abbs/cd0c437d9a535c29747bdfa1831f98a4c0c4453d
Chromosome Quirks Linked to Aging and Cancer :: By :: Article :: Super DoctorsChromosome Quirks Linked to Aging and Cancer :: By :: Article :: Super Doctors
From NIH Research Matters (NIH) May 17, 2012 Large structural abnormalities in chromosomes become more common with age and may be linked to increased risk for cancer, according to 2 large-scale analyses. The findings offer insights into how cancer and other disorders might emerge as people get older.. Previous studies suggest that a type of structural abnormality in chromosomes called genetic mosaicism may play a role in certain health conditions such as miscarriages, birth defects and some cancers. Genetic mosaicism can arise when portions of chromosomes-or even entire chromosomes-are deleted or duplicated as a cell divides. These altered chromosomes might be created during embryonic development or later in life. When cells with altered chromosomes persist, a person can develop a mixture of both normal and mutated cells.. The frequency of mosaicism and its relationship to health conditions in the general population have been unclear. In the 2 new studies, independent research teams analyzed ...
https://superdoctors.com/article/Chromosome-Quirks-Linked-to-Aging-and-Cancer/7b0f8d6b-e087-42d3-81f7-6d9dd869f0b6.html
Welcome to CDC stacks | Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome -...Welcome to CDC stacks | Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome -...
To investigate large structural clonal mosaicism of chromosome X, we analysed the SNP microarray intensity data of 38,303 women from cancer genome-wide association studies (20,878 cases and 17,425 controls) and detected 124 mosaic X events >2 Mb in 97 (0.25%) women. Here we show rates for X-chromosome mosaicism are four times higher than mean autosomal rates; X mosaic events more often include the entire chromosome and participants with X events more likely harbour autosomal mosaic events. X mosaicism frequency increases with age (0.11% in 50-year olds; 0.45% in 75-year olds), as reported for Y and autosomes. Methylation array analyses of 33 women with X mosaicism indicate events preferentially involve the inactive X chromosome. Our results provide further evidence that the sex chromosomes undergo mosaic events more frequently than autosomes, which could have implications for understanding the underlying mechanisms of mosaic events and their possible contribution to risk for chronic diseases ...
https://stacks.cdc.gov/view/cdc/40463
Karyotyping and prenatal diagnosis of 47,XX,+ 8[67]/46,XX [13] Mosaicism: case report and literature review | BMC Medical...Karyotyping and prenatal diagnosis of 47,XX,+ 8[67]/46,XX [13] Mosaicism: case report and literature review | BMC Medical...
Trisomy 8 mosaicism has a wide phenotypic variability, ranging from mild dysmorphic features to severe malformations. This report concluded a female pregnant woman with trisomy 8 mosaicism, and carefully cytogenetic diagnoses were performed to give her prenatal diagnostic information. This report also provides more knowledge about trisomy 8 mosaicism and the prenatal diagnostic for clinicians. In this present study, we reported one case of pregnancy woman with trisomy 8 mosaicism. Noninvasive prenatal testing prompted an abnormal Z-score, but further three dimension color ultrasound result suggested a single live fetus with no abnormality. The phenotypic of the pregnant woman was normal. Based on our results, there were no abnormal initial myeloid cells (| 10− 4), which suggested that the patient had no blood diseases. The peripheral blood karyotype of the patient was 47,XX,+ 8[67]/46,XX [13], and karyotype of amniotic fluid was 46, XX. The next generation sequencing (NGS) result suggested that the
https://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-019-0639-8/tables/2
Symptoms of Trisomy 13 mosaicism - RightDiagnosis.comSymptoms of Trisomy 13 mosaicism - RightDiagnosis.com
Symptoms of Trisomy 13 mosaicism including 48 medical symptoms and signs of Trisomy 13 mosaicism, alternative diagnoses, misdiagnosis, and correct diagnosis for Trisomy 13 mosaicism signs or Trisomy 13 mosaicism symptoms.
http://www.rightdiagnosis.com/t/trisomy_13_mosaicism/symptoms.htm
45,X/47,XXX/47,XX, del(Y)(p?)/46,XX mosaicism causing true hermaphroditism. - PubMed - NCBI
Generate a file for use with external citation management software. Here we report a TH case in which hidden mosaicism for the Y and X chromosome was detected by PCR and FISH xxx p peripheral blood and gonadal tissue, supporting the fact that mosaicism may cause TH and that molecular analysis of gonadal tissue should be performed in all 46,XX cases. Permanent link to this document https: See also Escortkvinnor I: Crime Lowest crime relative to the rest of Seneca. Goebelii haeredum- Cumdumpster 0 Rezensionen. Genetic heterogeneity has been proposed as a cause of dual gonadal peta jensen interracial in some cases and recently, hidden mosaicism was reported to cause TH in some 46,XX SRY negative patients ...
http://mah-yann.se/3d-porn/xxx-p.php
May Gene Therapy: Making Decisions About Mosaic EmbryosMay Gene Therapy: Making Decisions About Mosaic Embryos
3 min read Preimplantation genetic screening (PGS) is a genetic test designed to improve in vitro fertilization (IVF) success rates by providing information about embryos chromosomal health. Embryos with the correct number of chromosomes (called euploid) have a higher chance of leading to a successful pregnancy than those with the incorrect number of chromosomes (called aneuploid). However, recent advances in PGS technology have uncovered a third class of PGS results that lie somewhere in between. This new class, deemed mosaic embryos, contain a mix of normal and abnormal cells. Euploid embryos are obviously your best shot at success, yet our data suggest that mosaics account for 10 - 20% of all PGS-tested embryos. That being the case, I find that the most common question asked by patients when reviewing their PGS results is What would this mosaic result mean for a pregnancy or a baby?. The answer is complicated. While mosaicism has always existed, it has only been reliably detectable for a ...
https://www.coopergenomics.com/blog/disease-awareness/may-gene-therapy-making-decisions-about-mosaic-embryos/
Familial Mixoploidy (Chromosomal Mosaicism): Symptoms, Diagnosis and Treatment - SymptomaFamilial Mixoploidy (Chromosomal Mosaicism): Symptoms, Diagnosis and Treatment - Symptoma
Familial Mixoploidy (Chromosomal Mosaicism): Read more about Symptoms, Diagnosis, Treatment, Complications, Causes and Prognosis.
https://www.symptoma.com/en/info/familial-mixoploidy
Mosaic Embryos: What does it mean, and how to handle it? | RMA of New York - World Class Fertility ServiceMosaic Embryos: What does it mean, and how to handle it? | RMA of New York - World Class Fertility Service
Mosaic Embryos: What does it mean, and how to handle it? Reproductive Medicine Associates New York Clinic offers Infertility Fertility Treatment IVF - NYC, Manhattan, Long Island, Westchester, White Plains, Nassau County, Queens and even Mexico. High Infertility Success Rate. Patients can manage infertility treatment cost. Egg, Ovum Donations Welcome. Both Male and female infertility treated.
https://www.rmany.com/blog/mosaic-embryo-what-does-it-mean-and-how-to-handle-it
Should You Consider Mosaic Embryos?Should You Consider Mosaic Embryos?
Mosaic embryos are a hot new topic in the world of surrogacy. But should you be considering using them? Read all about them here to see.
https://www.growinggenerations.com/egg-donation-resources-for-intended-parents/should-you-consider-using-mosaic-embryos/
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. | Sigma-AldrichMutations in CEP57 cause mosaic variegated aneuploidy syndrome. | Sigma-Aldrich
Sigma-Aldrich offers abstracts and full-text articles by [Katie Snape, Sandra Hanks, Elise Ruark, Patricio Barros-Núñez, Anna Elliott, Anne Murray, Andrew H Lane, Nora Shannon, Patrick Callier, David Chitayat, Jill Clayton-Smith, David R Fitzpatrick, David Gisselsson, Sebastien Jacquemont, Keiko Asakura-Hay, Mark A Micale, John Tolmie, Peter D Turnpenny, Michael Wright, Jenny Douglas, Nazneen Rahman].
https://www.sigmaaldrich.com/catalog/papers/21552266
Causes of Trisomy 21 mosaicism - RightDiagnosis.comCauses of Trisomy 21 mosaicism - RightDiagnosis.com
Causes of Trisomy 21 mosaicism including triggers, hidden medical causes of Trisomy 21 mosaicism, risk factors, and what causes Trisomy 21 mosaicism.
http://www.rightdiagnosis.com/t/trisomy_21_mosaicism/causes.htm
2020 ICD-10-CM Diagnosis Code Q98.7: Male with sex chromosome mosaicism2020 ICD-10-CM Diagnosis Code Q98.7: Male with sex chromosome mosaicism
Free, official coding info for 2020 ICD-10-CM Q98.7 - includes detailed rules, notes, synonyms, ICD-9-CM conversion, index and annotation crosswalks, DRG grouping and more.
https://www.icd10data.com/ICD10CM/Codes/Q00-Q99/Q90-Q99/Q98-/Q98.7
High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome | Journal of Medical GeneticsHigh-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome | Journal of Medical Genetics
With the use of a targeted approach, combined with deep and ultra-deep sequencing, we detected low-level DICER1 mutant allele fractions in three patients exhibiting mosaicism for the detected mutations. The fourth case is also likely to be a mosaic for DICER1. These mosaic missense mutations were localised to hotspots within the sequence encoding the DICER1 RNase IIIb domain and have been shown to selectively reduce 5p miRNA processing.34-36 We also discovered likely pathogenic second somatic mutations or LOH in tumours from all four patients, thus showing that the two-hit model applied to the tumours we studied (table 2 and online supplementary table S1).. The exact developmental stage at which the mosaic mutations were acquired has not been accurately determined, but given the presence of the mutant allele in tissue samples from all three germ layers, we suspect that the mutations occurred prior to gastrulation.1 ,37 The mosaic origin of patient 4s mutation remains to be unequivocally ...
http://jmg.bmj.com/content/53/1/43
Gonadal Mosaicism Induced by Chemical Treatment of Sperm in Drosophila melanogaster | GeneticsGonadal Mosaicism Induced by Chemical Treatment of Sperm in Drosophila melanogaster | Genetics
The Genetics Society of America (GSA), founded in 1931, is the professional membership organization for scientific researchers and educators in the field of genetics. Our members work to advance knowledge in the basic mechanisms of inheritance, from the molecular to the population level.. Online ISSN: 1943-2631. ...
https://www.genetics.org/content/202/1/157.supplemental
Confined placental mosaicism for 22q11.2 deletion as the etiology for by M Bunnell, Chengsheng Zhang et al.Confined placental mosaicism for 22q11.2 deletion as the etiology for by M Bunnell, Chengsheng Zhang et al.
22q11.2 deletion, the most common microdeletion syndrome within the general population, is estimated to have a prevalence of 1 in 3000 to 6000. Non-invasive prenatal testing has recently expanded to include screening for several microdeletions including 22q11.2. Given the expansion of prenatal screening options to include microdeletions, it is important to understand the limits of this technology and the variety of reasons that a discordant positive result can occur. Here, we describe a case of a pregnant woman who received a positive non-invasive prenatal maternal plasma screen for 22q11.2 deletion. Maternal and postnatal neonatal peripheral blood cytogenetic, PCR, and fluorescence in situ hybridization studies were normal, but the placenta was mosaic for 22q11.2 deletion in two of three biopsy sites. This case illustrates both the complexities of pre- and post-test counseling for microdeletion screening and the potential for a discordant positive microdeletion result because of confined placental
https://mouseion.jax.org/stfb2017/96/
Array-MLPA analysis of chromosome X monosomy mosaicism. | Open-iArray-MLPA analysis of chromosome X monosomy mosaicism. | Open-i
Array-MLPA analysis of chromosome X monosomy mosaicism. (A) A female patient (B10) with mosaicism. The average copy number on chromosome X was 0.71. (B) G-bandi
https://openi.nlm.nih.gov/detailedresult.php?img=PMC3111339_1471-2350-12-68-4&req=4
Mosaicism down syndrome characteristics
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http://beatclub.tk/mosaicism-down-syndrome-characteristics
Mosaic mutations during embryonic development can cause autism spectrum disorderMosaic mutations during embryonic development can cause autism spectrum disorder
Two studies in todays Nature Neuroscience, led by researchers at Boston Childrens Hospital, Brigham and Womens Hospital (BWH), and Harvard Medical School (HMS), implicate mosaic mutations arising during embryonic development as a cause of autism spectrum disorder (ASD). The findings open new areas for exploring the genetics of ASD and could eventually inform diagnostic testing.
https://www.news-medical.net/news/20210111/Mosaic-mutations-during-embryonic-development-can-cause-autism-spectrum-disorder.aspx
Mosaicism in the organization of Con A binding sites on the me...Mosaicism in the organization of Con A binding sites on the me...
Mosaicism in the organization of Con A binding sites on the membrane surface of female cells of Nicotiana tabacum.: The presence of mosaicism in the organizatio
https://www.mysciencework.com/publication/show/mosaicism-organization-con-binding-sites-membrane-surface-female-cells-nicotiana-tabacum-b77b751d
Qoo10 - [For Toyo goods, not cash] Girls Fashion (Yasukawa) mosaic pattern A-l... : Womens ClothingQoo10 - [For Toyo goods, not cash] Girls Fashion (Yasukawa) mosaic pattern A-l... : Womens Clothing
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Gene control of hematopoiesis. I. Erythrocyte mosaicism and permanent by B Mintz and J PalmGene control of hematopoiesis. I. Erythrocyte mosaicism and permanent by B Mintz and J Palm
Mintz, B and Palm, J, Gene control of hematopoiesis. I. Erythrocyte mosaicism and permanent immunological tolerance in allophenic mice. (1969). Subject Strain Bibliography 1969. 1164 ...
http://mouseion.jax.org/ssbb1969/1164/
Paternal mosaicism of an STXBP1 mutation in OSPaternal mosaicism of an STXBP1 mutation in OS
Ohtahara syndrome (OS) is one of the most severe and earliest forms of epilepsy. We have recently identified that the de novo mutations of STXBP1 are important causes for OS. Here we report a paternal somatic mosaicism of an STXBP1 mutation. The affected daughter had onset of spasms at 1 month of ag …
https://pubmed.ncbi.nlm.nih.gov/21062273/
Mouse model of chromosome mosaicism reveals lineage-specific depletion of aneuploid cells and normal developmental potential. |...Mouse model of chromosome mosaicism reveals lineage-specific depletion of aneuploid cells and normal developmental potential. |...
Sigma-Aldrich offers abstracts and full-text articles by [Helen Bolton, Sarah J L Graham, Niels Van der Aa, Parveen Kumar, Koen Theunis, Elia Fernandez Gallardo, Thierry Voet, Magdalena Zernicka-Goetz].
https://www.sigmaaldrich.com/catalog/papers/27021558
DNA metabolisms role in neuronal activity-dependent processes
Recently some studies demonstrate that adult neuronal genome is a genetic mosaic but the role of this mosaicism and how is generated are not well known. The two main mechanisms that could result in the neuronal mosaic genome are somatic recombination and the LINE-1 (L1) retrotransposition. Some evidences, alterations in central nervous system development found in knock-out (KO) mice for proteins related with DNA repair processes and L1 activation in neuronal precursors, suggest that neuronal genome mosaicism may be related with the generation of neuronal diversity during central nervous system development. However, if genome reorganization processes happen in the adult nervous system during neuronal plasticity events are not established. Recently, it has been reported that neuronal activity transiently provokes increase of neuronal DNA breaks in cerebral areas where long-term neuronal plasticity events takes place, in some case related with cognition. DNA breaks have been related with the ...
https://rio.upo.es/xmlui/handle/10433/4797
CNR NANO - Istituto Nanoscienze Consiglio Nazionale delle Ricerche
Genetic mosaicism occurs when the cells in a tissue express two different genomes. There are many examples of this situation that has very important consequences if one of the alternative genomes expresses a pathological protein. In this case the tissue can be pathological even if only a subset of cells is diseased. A striking example of genetic mosaics is present in all female mammalians: here each cell has two copies of the X chromosome as opposed to males that only have a single copy of the chromosome. To prevent this duplication, one of the two copies is randomly inactivated, and therefore in a tissue there is a mosaic of cells expressing one or the other X chromosome. If one chromosome carries a pathological mutation the disease that arises is characterized by an intermixing of normal and diseased cells. A prototypic example of this class of pathologies is the Rett syndrome (RS), a rare and untreatable disease characterized by the insurgence of autism, mental regression and ataxia after ...
http://www.nano.cnr.it/index.php?mod=men&id=220
Researchers discover how human cells maintain the correct number of chromosomes - Scienmag: Latest Science and Health NewsResearchers discover how human cells maintain the correct number of chromosomes - Scienmag: Latest Science and Health News
Some people are born with mutations that predispose them to aneuploidy. One such condition is mosaic variegated aneuploidy (MVA) in which patients lack a small part of the BubR1 protein. It is a very rare condition, but those affected can suffer from microcephaly (smaller than normal head), restricted growth, problems with the brain and nervous system, developmental delay, mental disability and seizures, as well as having an increased risk of cancer.. Dr Draviam said: It will be useful to see what are the levels of AuroraB kinase in MVA patients who lack portions of the BubR1 gene in their DNA. To counteract the loss of BubR1 in these patients, perhaps Aurora-B could be reduced. Also we are curious to know whether chromosomes are captured normally in patients lacking BubR1-bound phosphatase. This may reveal novel ways to tackle additional changes in chromosome numbers seen in patients who suffer from BubR1 mutations.. In fertility treatments, it will be useful to study the levels of these two ...
https://scienmag.com/researchers-discover-how-human-cells-maintain-the-correct-number-of-chromosomes/
Aging in Check -- Dai and Wang 2006 (7): pe9 -- <i>Science</i...Aging in Check -- Dai and Wang 2006 (7): pe9 -- <i>Science</i...
Wei Dai, and Xiaoxing Wang The authors are in the Division of Molecular Carcinogenesis of the Department of Medicine, New York Medical College, Valhalla, NY 10595, USA. E-mail: wei_dai{at}nymc.edu. (W.D.) http://sageke.sciencemag.org/cgi/content/full/2006/7/pe9 Key Words: spindle checkpoint aneuploidy chromosome instability senescence p53 mosaic variegated aneuploidy syndrome. Abstract: The spindle checkpoint monitors the interaction between spindle microtubules and kinetochores to prevent precocious entry into anaphase, delaying this stage of mitosis until all condensed chromosomes have been attached to the mitotic spindle in a bi-oriented manner (so that the two kinetochores associated with a pair of sister chromatids are oriented toward opposite poles of the spindle). In addition to conserved Bub and Mad family members, which are known to function in the spindle checkpoint pathway in organisms ranging from yeast to mammals, two mRNA transport genes, Rae1 and Nup9, are also involved in the ...
http://sageke.sciencemag.org/cgi/content/abstract/2006/7/pe9
017530 - STOCK Igs2|tm2(ACTB-tdTomato,-EGFP)Luo| Trp53|tm1Tyj| Nf1|tm1Par|/J017530 - STOCK Igs2|tm2(ACTB-tdTomato,-EGFP)Luo| Trp53|tm1Tyj| Nf1|tm1Par|/J
The MADM-TG,p53KO,NF1-flox strain may be used as a genetic mosaicism model for different types of cancers when bred to the companion MADM strain (Stock No. |a href=https://www.jax.org/strain/013749|013749|/a|), and to a Cre recombinase expressing strain.
https://www.jax.org/strain/017530
Clinical signs of mosaicism<...
TY - JOUR. T1 - Clinical signs of mosaicism. AU - Méhes, K.. AU - Kosztolányi, G.. PY - 1995/8. Y1 - 1995/8. UR - http://www.scopus.com/inward/record.url?scp=0029100269&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=0029100269&partnerID=8YFLogxK. U2 - 10.1007/BF02079086. DO - 10.1007/BF02079086. M3 - Article. C2 - 7588980. AN - SCOPUS:0029100269. VL - 154. SP - 690. JO - European Journal of Pediatrics. JF - European Journal of Pediatrics. SN - 0340-6199. IS - 8. ER - ...
https://hungary.pure.elsevier.com/en/publications/clinical-signs-of-mosaicism
Distinct mechanisms underlie pattern formation in the skin and skin appendages - The Mathematical Institute, University of...
Patterns form with the break of homogeneity and lead to the emergence of new structure or arrangement. There are different physiological and pathological mechanisms that lead to the formation of patterns. Here, we first introduce the basics of pattern formation and their possible biological basis. We then discuss different categories of skin patterns and their potential underlying molecular mechanisms. Some patterns, such as the lines of Blaschko and Naevus, are based on cell lineage and genetic mosaicism. Other patterns, such as regionally specific skin appendages, can be set by distinct combinatorial molecular codes, which in turn may be set by morphogenetic gradients. There are also some patterns, such as the arrangement of hair follicles (hair whorls) and fingerprints, which involve genetics as well as stochastic epigenetic events based on physiochemical principles. Many appendage primordia are laid out in developmental waves. In the adult, some patterns, such as those involving cycling hair ...
http://eprints.maths.ox.ac.uk/312/
Plus itPlus it
The present findings demonstrate the importance of mPFC hypofunction in RTT by showing that activation of mPFC pyramidal neurons can reverse abnormalities in breathing and long-term retrieval of conditioned fear learning in Mecp2 Het mice, a model of RTT that recapitulates the genetic mosaicism and many phenotypic characteristics of the human disorder. It seems likely that distinct mechanisms downstream of enhanced pyramidal neuron activity underlie the reversal of these respiratory and cognitive abnormalities, respectively. This is underscored by the fact that the normalization of respiratory apneas and respiratory variability was transient and undetectable 24 h after CNO treatment, the same time point at which fear memory retrieval was rescued in mPFC-DREADD mutants. These differences could be explained by the fact that different populations of mPFC neurons innervate brainstem versus cortical and subcortical forebrain targets (Gabbott et al., 2005). In general, loss of Mecp2 is thought to ...
http://www.eneuro.org/content/4/6/ENEURO.0277-17.2017
Clinical Genetics Blog: 2010
This paper reports on screening of one of many rare genetic causes of autism, the SHANK3 gene, in a large (185 probands) cohort of individuals ascertained for schizophrenia. 6 nonsynonymous variants were found only in the schizophrenia cohort, and 4 (H494Q, S952T, G1011V, and P1134H) were transmitted from an unaffected parent and excluded from further analysis. This quoted comment Therefore, these four transmitted nonsynonymous variants can be excluded from a direct role as dominant mutations in SCZ, is not necessarily accurate from a genetics standpoint, as dominant mutations may show incomplete penetrance or variable expressivity, etc. The authors appear to be assuming that penetrance of a dominant disease gene must be high. In any case, two cases had de novo mutations not found in 285 controls. One of these individuals had two affected brothers with the same mutation, likely due to paternal gonadal mosaicism. All individuals had premorbid MR. It seems that this gene may be responsible for ...
http://clingenblog.blogspot.com/2010/
LFS FAQsLFS FAQs
When someone is mosaic for LFS, it means that they have a TP53 pathogenic variant in some of the cells of their body, but not all of the cells of their body. This can occur when someone is the first person in their family to have LFS. Mosaicism happens when one cell acquires a TP53 pathogenic variant early in embryonic development, but after the egg and sperm join to form a single cell. Individuals with mosaic LFS may have lower cancer risks than those without mosaicism, as not all the tissues in their body have a TP53 pathogenic variant. There is currently no way to fully predict what tissues in the body are affected with a pathogenic variant as mosaicism can vary from cell to cell, even within the same tissue. Because of this, individuals with mosaic LFS are often screened using the same protocol as those with a TP53 gene variant in all the cells of his or her body.. If someone has a TP53 pathogenic variant in their egg or sperm cells, but that variant is not identifiable in other tissues of ...
https://www.lfsassociation.org/lfs-faqs/
ZFIN Publication: Hsu et al., 2006ZFIN Publication: Hsu et al., 2006
Establishment of apical-basal cell polarity has emerged as an important process during development, and the Crumbs complex is a major component of this process in Drosophila. By comparison, little is known about the role of Crumbs (Crb) proteins in vertebrate development. We show that the FERM protein Mosaic Eyes (Moe) is a novel regulatory component of the Crumbs complex. Moe coimmunoprecipitates with Ome/Crb2a and Nok (Pals1) from adult eye and in vitro interaction experiments suggest these interactions are direct. Morpholino knockdown of ome/crb2a phenocopies the moe mutations. Moe and Crumbs proteins colocalize apically and this apical localization requires reciprocal protein function. By performing genetic mosaic analyses, we show that moe- rod photoreceptors have greatly expanded apical structures, suggesting that Moe is a negative regulator of Crumbs protein function in photoreceptors. We propose that Moe is a crucial regulator of Crumbs protein cell-surface abundance and localization in ...
https://zfin.org/ZDB-PUB-080825-4
Visualization of C. elegans transgenic arrays by GFPVisualization of C. elegans transgenic arrays by GFP
The GFP-LacI*lacO transgene detection system works in C. elegans for visualization of chromosomes and extrachromosomal transgenes. It can be used as a marker for genetic mosaic analysis. The lacO repeat sequence as an extrachromosomal array becomes a valuable technique allowing rapid, accurate deter …
https://pubmed.ncbi.nlm.nih.gov/16759392/?dopt=Abstract
Heidelberg Forum - Biowissenschaft und Gesellschaft - EMBL
Understanding how the information encoded by the genome contributes to phenotypic variation remains one of the great challenges in life sciences. It is now accepted that the cells of an organism all contain essentially the same DNA and that differential gene expression accounts for different cell identities. However, even within an individual, there can be remarkable phenotypic variation between cells of the same type. What accounts for differences within an individual, even in genetically identical cells, or for differences between genetically identical individuals such as twins? What are the driving forces for such phenotypic variation? Epigenetic changes account for some of this variation. A striking example of this is the mammalian process of X-chromosome inactivation in females, whereby one of the two X chromosomes is silenced at random early on in development and then maintained in a clonally heritable manner, leading to cellular mosaicism for X-linked gene expression and phenotypic ...
https://www.embl.de/aboutus/science_society/hd_forum/upcoming/heard/index.html
Cellular automata and integrodifferential equation models for cell renewal in mosaic tissues | Journal of The Royal Society...Cellular automata and integrodifferential equation models for cell renewal in mosaic tissues | Journal of The Royal Society...
Proliferation is a fundamental cellular process, forming the basis of renewal in all higher organisms. It has an important role in many situations, including embryogenesis and tissue maintenance, although the extent to which it is a driver for such multi-cellular processes is not known. Cellular proliferation is modulated by cell signalling. This may be contact-dependent, requiring cells to physically touch each other, or it may involve longer range processes (Webb & Owen 2004; Graham & van Ooyen 2006). Once a cell has received a proliferation signal, it produces a daughter cell of its own type.. The question of how the decision to proliferate is made has appeared in relation to multiple biological problems. One such, which we will concern ourselves with here, is that of mosaicism. Mosaic tissues are composed of two or more genetically distinct cell types, and the mosaic patterns produced by this mix of cells are witnessed in many scenarios. For example, certain human diseases involving ...
http://rsif.royalsocietypublishing.org/content/7/52/1525
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue...PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue...
Mosaicism is increasingly recognized as a cause of developmental disorders with the advent of next-generation sequencing (NGS). Mosaic mutations of PIK3CA have been associated with the widest spectrum of phenotypes associated with overgrowth and vascular malformations. We performed targeted NGS
https://ora.ox.ac.uk/objects/uuid:044d410a-7ef6-4428-80de-8430ad4bfc90
JCI Insight - Longitudinal adaptive optics fluorescence microscopy reveals cellular mosaicism in patientsJCI Insight - Longitudinal adaptive optics fluorescence microscopy reveals cellular mosaicism in patients
Clinical evaluation of human subjects. Fourteen healthy subjects with visual acuity of 20/20 or better, no history or signs of ocular disease in at least 1 eye, and no known allergies to shellfish, iodine, or ICG were recruited for this study (NCT02317328; https://clinicaltrials.gov). Participants who were willing to return for additional visits were invited for additional imaging, consisting of either follow-up AO imaging alone (days afterward), repeated AO with ICG injection on a subsequent visit 3-12 months later, or both. Additionally, 4 patients with OCA (single visit), 1 patient with L-ORD (2 visits spaced 12 months apart), and 1 patient with BCD (2 visits 7 months apart) were included in this study. All patients underwent best corrected visual acuity testing, dilated funduscopic examination, color fundus (Topcon) and autofluorescence imaging (Spectralis, Heidelberg Engineering. All patients underwent genetic testing prior to recruitment for this study and had molecularly confirmed ...
https://insight.jci.org/articles/view/124904
Instituto Bernabeu identifies the factors that permit embryo cell abnormality prediction in IFV treatment cycles - Instituto...Instituto Bernabeu identifies the factors that permit embryo cell abnormality prediction in IFV treatment cycles - Instituto...
Instituto Bernabeu will present research work entitled Factors associated with chromosomal mosaicism in trophoectoderm cells at the European Society of Human Reproduction and Embryology (ESHRE) congress to be held between 2nd and 5th
https://www.institutobernabeu.com/nl/seccion/actualidad/v/instituto-bernabeu-identifies-the-factors-that-permit-embryo-cell-abnormality-prediction-in-ifv-treatment-cycles/
Germinal mosaicism | definition of germinal mosaicism by Medical dictionaryGerminal mosaicism | definition of germinal mosaicism by Medical dictionary
Looking for online definition of germinal mosaicism in the Medical Dictionary? germinal mosaicism explanation free. What is germinal mosaicism? Meaning of germinal mosaicism medical term. What does germinal mosaicism mean?
https://medical-dictionary.thefreedictionary.com/germinal+mosaicism
Mosaicism | St. Louis Childrens HospitalMosaicism | St. Louis Childrens Hospital
The term mosaicism is used to describe the presence of more than one type of cell in a person. For example, a person may have some of the cells in their body with 46 chromosomes, while other cells in their body have 47 chromosomes. An example of mosaicism is mosaic Down syndrome.. About 95 percent of people with Down syndrome have trisomy 21, where there is an extra #21 chromosome in every cell of their body. Three to 4 percent of people with Down syndrome have translocation Down syndrome, where all or part of the extra #21 chromosome is attached to another chromosome. The remaining 1 to 2 percent of individuals with Down syndrome are mosaic, where there are at least two types of cells, some with the usual number of chromosomes (46 total), and others with an extra #21 chromosome (47 total). Rarely, a person can have more than two types of cell lines.. Mosaicism is usually described as a percentage. For example, when a baby is born with Down syndrome, the physician will take a blood sample to ...
http://www.stlouischildrens.org/diseases-conditions/mosaicism
Turners syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesis | Molecular Cytogenetics ...Turners syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesis | Molecular Cytogenetics ...
Turners syndrome is associated with either monosomy or a wide spectrum of structural rearrangements of chromosome X. Despite the interest in studying (somatic) chromosomal mosaicism, Turners syndrome mosaicism (TSM) remains to be fully described. This is especially true for the analysis of TSM in clinical cohorts (e.g. cohorts of individuals with neurodevelopmental disorders). Here, we present the results of studying TSM in a large cohort of girls with neurodevelopmental disorders and a hypothesis highlighting the diagnostic and prognostic value. Turners syndrome-associated karyotypes were revealed in 111 (2.8%) of 4021 girls. Regular Turners syndrome-associated karyotypes were detected in 35 girls (0.9%). TSM was uncovered in 76 girls (1.9%). TSM manifested as mosaic aneuploidy (45,X/46,XX; 45,X/47,XXX/46,XX; 45,X/47,XXX) affected 47 girls (1.2%). Supernumerary marker chromosomes derived from chromosome X have been identified in 11 girls with TSM (0.3%). Isochromosomes iX(q) was found in 12 cases
https://molecularcytogenetics.biomedcentral.com/articles/10.1186/s13039-021-00529-2
Prenatal diagnosis of mosaic trisomy 8q studied by ultrasound, cytogenetics, and array-CGH<...
TY - JOUR. T1 - Prenatal diagnosis of mosaic trisomy 8q studied by ultrasound, cytogenetics, and array-CGH. AU - Wood, Elizabeth. AU - Dowey, Sarah. AU - Saul, Daniel. AU - Cain, Colyn. AU - Rossiter, Judith. AU - Blakemore, Karin. AU - Stetten, Gail. PY - 2008/3/15. Y1 - 2008/3/15. N2 - Mosaic trisomy 8, also known as Warkany syndrome, has a well-characterized constellation of phenotypic findings. Partial trisomy 8, including mosaic cases, has also been reported, with outcome and counseling dependent on the chromosomal segment involved and whether accompanied by partial aneuploidy for other chromosomes. We present a case of a fetus mosaic for trisomy of the entire long arm (q) of chromosome 8 without additional chromosomal aberrations. The diagnosis was made by amniocentesis performed following an 18 week sonogram that showed multiple fetal anomalies. Mosaicism for trisomy 8q was confirmed by routine karyotyping and fluorescent in situ hybridization (FISH) analysis. The case proved useful for ...
https://jhu.pure.elsevier.com/en/publications/prenatal-diagnosis-of-mosaic-trisomy-8q-studied-by-ultrasound-cyt-3
Somatic mosaicism in neuronal precursor cells mediated by L1 retrotransposition
Abstract: Revealing the mechanisms for neuronal somatic diversification remains a central challenge for understanding individual differences in brain organization and function. Here we show that an engineered human LINE-1 (for long interspersed nuclear element-1; also known as L1) element can retrotranspose in neuronal precursors derived from rat hippocampus neural stem cells. The resulting retrotransposition events can alter the expression of neuronal genes, which, in turn, can influence neuronal cell fate in vitro. We further show that retrotransposition of a human L1 in transgenic mice results in neuronal somatic mosaicism. The molecular mechanism of action is probably mediated through Sox2, because a decrease in Sox2 expression during the early stages of neuronal differentiation is correlated with increases in both L1 transcription and retrotransposition. Our data therefore indicate that neuronal genomes might not be static, but some might be mosaic because of de novo L1 retrotransposition ...
https://deepblue.lib.umich.edu/handle/2027.42/62714
CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles<...
TY - JOUR. T1 - CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles. AU - Pretto, Dalyir I.. AU - Mendoza-Morales, Guadalupe. AU - Lo, Joyce. AU - Cao, Ru. AU - Hadd, Andrew. AU - Latham, Gary J.. AU - Durbin-Johnson, Blythe. AU - Hagerman, Randi J. AU - Tassone, Flora. PY - 2014. Y1 - 2014. N2 - Background: Greater than 200 CGG repeats in the 5UTR of the FMR1 gene lead to epigenetic silencing and lack of the FMR1 protein, causing fragile X Syndrome. Individual carriers of a premutation (PM) allele with 55-200 CGG repeats are typically unmethylated and can present with clinical features defined as FMR1-associated conditions. Methods: Blood samples from 17 male PM carriers were assessed clinically and molecularly by Southern blot, western blot, PCR and QRT-PCR. Blood and brain tissue from an additional 18 PM males were also similarly examined. Continuous outcomes were modelled using linear regression and binary outcomes were modelled using logistic regression. Results: ...
https://ucdavis.pure.elsevier.com/en/publications/cgg-allele-size-somatic-mosaicism-and-methylation-in-fmr1-premuta
Detectable Clonal Mosaicism from Birth to Old Age and its Relationship to CancerDetectable Clonal Mosaicism from Birth to Old Age and its Relationship to Cancer
Clonal mosaicism for large chromosomal anomalies (duplications, deletions and uniparental disomy) was detected using SNP microarray data from over 50,000 subjects recruited for genome-wide association studies. This detection method requires a relatively high frequency of cells (,5-10%) with the same abnormal karyotype (presumably of clonal origin) in the presence of normal cells. The frequency of detectable clonal mosaicism in peripheral blood is low (,0.5%) from birth until 50 years of age, after which it rises rapidly to 2-3% in the elderly. Many of the mosaic anomalies are characteristic of those found in hematological cancers and identify common deleted regions that pinpoint the locations of genes previously associated with hematological cancers. Although only 3% of subjects with detectable clonal mosaicism had any record of hematological cancer prior to DNA sampling, those without a prior diagnosis have an estimated 10-fold higher risk of a subsequent hematological cancer (95% confidence ...
https://dash.harvard.edu/handle/1/10610368
PLOS Genetics: Sex Chromosome Mosaicism and Hybrid Speciation among Tiger Swallowtail ButterfliesPLOS Genetics: Sex Chromosome Mosaicism and Hybrid Speciation among Tiger Swallowtail Butterflies
Author Summary Hybridization between two species may sometimes lead to the formation of a third species. While this phenomenon is of interest because it can generate new species from existing variation, it is rare in animals. Therefore, the factors responsible for the origin and maintenance of hybrid species are largely unknown. Here we show that the butterfly Papilio appalachiensis appears to be a hybrid species, which received nearly equal contributions to its genome from P. glaucus and P. canadensis. Two sets of traits define P. appalachiensis hybrid phenotype: like P. canadensis it inhabits a cold habitat and has a single generation every year, and like P. glaucus it mimics a toxic butterfly and its females are dimorphic. The genes responsible for these traits are on two different sex chromosomes. Our genetic data show that P. appalachiensis inherited the sex chromosome associated with the cold habitat from P. canadensis, whereas it inherited the sex chromosome associated with mimicry and
http://journals.plos.org/plosgenetics/article/comments?id=10.1371/journal.pgen.1002274&imageURI=info:doi/10.1371/journal.pgen.1002274.g002
PLOS Genetics: Sex Chromosome Mosaicism and Hybrid Speciation among Tiger Swallowtail ButterfliesPLOS Genetics: Sex Chromosome Mosaicism and Hybrid Speciation among Tiger Swallowtail Butterflies
Author Summary Hybridization between two species may sometimes lead to the formation of a third species. While this phenomenon is of interest because it can generate new species from existing variation, it is rare in animals. Therefore, the factors responsible for the origin and maintenance of hybrid species are largely unknown. Here we show that the butterfly Papilio appalachiensis appears to be a hybrid species, which received nearly equal contributions to its genome from P. glaucus and P. canadensis. Two sets of traits define P. appalachiensis hybrid phenotype: like P. canadensis it inhabits a cold habitat and has a single generation every year, and like P. glaucus it mimics a toxic butterfly and its females are dimorphic. The genes responsible for these traits are on two different sex chromosomes. Our genetic data show that P. appalachiensis inherited the sex chromosome associated with the cold habitat from P. canadensis, whereas it inherited the sex chromosome associated with mimicry and
http://journals.plos.org/plosgenetics/article/figure?id=10.1371/journal.pgen.1002274.g005
Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated...Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated...
Conclusions We herein show somatic NLRP3 mosaicism underlying MWS, probably representing a shared genetic mechanism in CAPS not restricted to CINCA syndrome. The data here described allowed definitive diagnoses of these patients, which had serious implications for gaining access to anti-interleukin 1 treatments under legal indication and for genetic counselling. The detection of somatic mosaicism is difficult when using conventional methods. Potential candidates should benefit from the use of modern genetic tools.. ...
https://ard.bmj.com/content/74/3/603.abstract
Rhonda E. Schnur, Author at Renal and Urology NewsRhonda E. Schnur, Author at Renal and Urology News
Are You Confident of the Diagnosis? What you should be alert for in the history Hypomelanosis of Ito [incontinentia pigmenti achromians] (HMI) is not one diagnosis, but a descriptive term for patterned pigmentary changes of the skin associated with underlying genetic mosaicism and, frequently, systemic abnormalities beyond the skin. The mosaicism may be at the…. ...
https://www.renalandurologynews.com/author/rhonda-e-schnur-dsm/
Meiotic drive of female-inherited supernumerary chromosomes in a pathogenic fungus | eLifeMeiotic drive of female-inherited supernumerary chromosomes in a pathogenic fungus | eLife
Meiosis is a key cellular process of sexual reproduction involving the pairing of homologous sequences. In many species however, meiosis can also involve the segregation of supernumerary chromosomes, which can lack a homolog. How these unpaired chromosomes undergo meiosis is largely unknown. In this study we investigated chromosome segregation during meiosis in the haploid fungus Zymoseptoria tritici that possesses a large complement of supernumerary chromosomes. We used isogenic whole chromosome deletion strains to compare meiotic transmission of chromosomes when paired and unpaired. Unpaired chromosomes inherited from the male parent as well as paired supernumerary chromosomes in general showed Mendelian inheritance. In contrast, unpaired chromosomes inherited from the female parent showed non-Mendelian inheritance but were amplified and transmitted to all meiotic products. We concluded that the supernumerary chromosomes of Z. tritici show a meiotic drive and propose an additional feedback ...
https://elifesciences.org/articles/40251v1
The significance of trisomy 7 mosaicism in noninvasive prenatal screening | Human Genomics | Full TextThe significance of trisomy 7 mosaicism in noninvasive prenatal screening | Human Genomics | Full Text
This study was an evaluation of the role of noninvasive prenatal testing (NIPT) in the detection of trisomy 7 in prenatal diagnosis. A total of 35 consecutive cases underwent screening for trisomies by cell-free DNA testing between April 2015 and November 2017 due to suspicious NIPT results; these cases represented 0.11% of patients (35/31,250) with similar frequencies of abnormal results among the laboratories performing the tests. NIPT was offered to further screen for common fetal chromosomal abnormalities. Karyotype analysis, chromosomal microarray analysis (CMA), and next-generation sequencing (NGS) were used to detect 20, 14, and 25 patients, respectively, who accepted confirmatory diagnostic testing. High-risk results by NIPT were recorded for trisomy 7 alone in 29 women: dual aneuploidy in 4 patients and multiple aneuploidy in 2 patients. Karyotype analysis of amniotic fluid cells was normal in all 20 pregnancies, suggesting a probability of confined placental mosaicism. Further CMA data were
https://humgenomics.biomedcentral.com/articles/10.1186/s40246-019-0201-y
Familial trisomy 7 mosaicism. | Journal of Medical GeneticsFamilial trisomy 7 mosaicism. | Journal of Medical Genetics
A trisomy 7 mosaicism (46, XX/47, XX+7) was identified by quinacrine mustard fluorescence studies in a psychiatric patient and in her daughter who also had mental illness. The aetiology of the trisomy 7 mosaicism in two generations of this family is postulated to involve an autosomal dominant gene as initially described by Zellweger and Abbo in 1965.. ...
http://jmg.bmj.com/content/12/2/200
Chromosomal mosaicism : underlying mechanisms and consequences for early human embryo developmentChromosomal mosaicism : underlying mechanisms and consequences for early human embryo development
In humans, reproduction is considered a relatively inefficient process, when compared with other mammalian species and the chance of achieving a spontaneous pregnancy after timed intercourse is at the most 20-30%. Chromosome segregation errors are a well-known inherent feature of cell division in human preimplantation embryos produced by in vitro ... read more fertilization (IVF). The occurrence of such errors, which results in embryos containing chromosomally abnormal (aneuploid) cells, is believed to be the main cause for the reported inefficiency of human reproduction, as it may lead to pre-clinical pregnancy losses. In this thesis we start by evaluating the impact of ovarian stimulation administrated to patients undergoing IVF on the development of IVF-derived human embryos. We conclude that although the use of ovarian stimulation is considered relatively safe, further studies are needed to increase the knowledge on this subject and reduce potential effects on embryo development and ...
https://dspace.library.uu.nl/handle/1874/259618
Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing. -...
Autosomal dominant genetic diseases can occur de novo and in the form of somatic mosaicism, which can give rise to a less severe phenotype, and make diagnosis more difficult given the sensitivity limits of the methods used. We report the case of female child with a history of surgery for syndactyly of the hands and feet, who was admitted at 6 years of age to a pediatric intensive care unit following cardiac arrest. The electrocardiogram (ECG) showed a long QT interval that on occasions reached 500 ms. Despite the absence of facial dysmorphism and the presence of normal psychomotor development, a diagnosis of Timothy syndrome was made given the association of syndactyly and the ECG features. Sanger sequencing of the CACNA1C gene, followed by sequencing of the genes KCNQ1, KCNH2, KCNE1, KCNE2, were negative. The subsequent analysis of a panel of genes responsible for hereditary cardiac rhythm disorders using Haloplex technology revealed a recurrent mosaic p.Gly406Arg missense mutation of the ...
https://www.medical-genetics.com/2017/10/25/incomplete-timothy-syndrome-secondary-to-a-mosaic-mutation-of-the-cacna1c-gene-diagnosed-using-next-generation-sequencing/
Allophenic Mice: A Pillar Awaiting Its Superstructure | The Journal of ImmunologyAllophenic Mice: A Pillar Awaiting Its Superstructure | The Journal of Immunology
A pillar is a firm upright support (1) for something. A pillar may stand alone or it may support a superstructure. The article of Beatrice Mintz and Willys Silvers (2) discussed here on grafting using allophenic mice is appropriately called a pillar of immunology for which the superstructure is yet to be completed.. Mintz and Silvers posed a question long considered fundamental to immunology: What is the origin of intrinsic tolerance. Intrinsic tolerance refers to the natural condition of specific nonresponsiveness to self. More than 60 years before, Ehrlich and Morgenroth had reasoned that injury and atrophy of tissues might lead to the development of immune reactions against autologous cells, but the occurrence of such reactions would be dysteleological in the highest degree (3). To explain why autologous reactions usually do not arise, Ehrlich and Morgenroth proposed that organisms must have a horror autotoxicus mediated by some regulating contrivances and believed that studying these ...
http://www.jimmunol.org/content/178/7/4005
Mosaic Embryos Archives - ART Compass- IVF Lab Management SoftwareMosaic Embryos Archives - ART Compass- IVF Lab Management Software
Image by Shopify Partners. After the embryo fall out has been transferred and inserted between the uterine walls, its not possible for the embryo to fall out as it is deep within the uterus and therefore you can safely continue with your normal routine after having an embryo transfer.. The transfer itself is a fairly simple procedure with very little discomfort. A thin, soft catheter is threaded through the cervix under ultrasound guidance, to be very exact in the embryo placement location, generally 1 to 2 cm from the top of the uterine cavity. After cleansing the cervix with solution, the fertility doctor will place an empty transfer catheter through the cervix into position inside the uterine cavity. Then the embryologist will bring the catheter containing the embryo(s) from the lab a few feet away, so we can minimize the time that the embryos are exposed.. Once we have the embryo(s), we feed the catheter with the embryo(s) fall out through the empty catheter that is in place. On the ...
https://artcompass.io/tag/mosaic-embryos/
Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease. - The...
Very-early-onset inflammatory bowel disease (VEO-IBD) is a heterogeneous phenotype associated with a spectrum of rare Mendelian disorders. Here, we perform whole-exome-sequencing and genome-wide genotyping in 145 patients (median age-at-diagnosis of 3.5 years), in whom no Mendelian disorders were clinically suspected. In five patients we detect a primary immunodeficiency or enteropathy, with clinical consequences (XIAP, CYBA, SH2D1A, PCSK1). We also present a case study of a VEO-IBD patient with a mosaic de novo, pathogenic allele in CYBB. The mutation is present in ~70% of phagocytes and sufficient to result in defective bacterial handling but not life-threatening infections. Finally, we show that VEO-IBD patients have, on average, higher IBD polygenic risk scores than population controls (99 patients and 18,780 controls; P | 4 × 10-10), and replicate this finding in an independent cohort of VEO-IBD cases and controls (117 patients and 2,603 controls; P | 5 × 10-10). This discovery indicates that a
https://www.jenner.ac.uk/publications/1089228
Mosaicism due to myeloid lineage-restricted loss of heterozygosity as cause of spontaneous Rh phenotype splitting | Blood...Mosaicism due to myeloid lineage-restricted loss of heterozygosity as cause of spontaneous Rh phenotype splitting | Blood...
In this study, the puzzling phenomenon of spontaneous coexistence of D-positive and D-negative RBC subpopulations was investigated. In a representative number of 9 patients with mixed Rh phenotype, the prevailing molecular background of this condition was elucidated. Rh mosaicism involving a hematopoietic stem-cell line with LOH on chromosome 1 was demonstrated to be the key mechanism for the observed RBC phenotype anomalies.. Frequent causes of mixed Rh phenotype, such as RBC transfusion or HSCT, had been ruled out in these patients, which was also confirmed by the fact that Rh and in one case also Fy but not other blood group antigens were affected. In addition, none of the patients displayed congenital or acquired chimerism,4 as evidenced by microsatellite analysis. This result was remarkable, as spontaneous chimerism had been reported to occur quite frequently.5,46. The immunohematologic properties of the D-positive and D-negative RBC subpopulations indicated loss of one complete RH ...
http://www.bloodjournal.org/content/110/6/2148?sso-checked=true
Plus itPlus it
XLAG is a novel genetic cause of GH excess. It usually presents at a very early age as a sporadic disease due to a de novo microduplication on the X chromosome involving the GPR101 gene in patients with gigantism (40-42). The majority of the cases are females with germline microduplication (14, 40, 42). Two familial cases have been described with transmission from affected mother to an affected son and show full penetrance (14). Somatic mosaic mutation cases have also been described in males where the mutation was identified in the pituitary tissue and/or at low level in germline (18, 41, 42). Although the originally identified Xq26.3 duplicated area involves four genes (14), only one of these, the GPR101 gene, has been found upregulated at the mRNA level in pituitary tissue. We have recently identified a patient with XLAG whose duplicated area includes only the GPR101 gene, but not the other three genes, indicating the pathogenic role of GPR101 (14, 42). Activation of GPR101, an orphan Gs ...
http://clincancerres.aacrjournals.org/content/22/20/5030
Advanced Radiology TeachingAdvanced Radiology Teaching
A hypoplastic cerebellum is incompletely formed or small but otherwise normal appearing. Hypoplastic cerebella result from reduction/premature cessation of cell production or cell migration or from excessive apoptosis in the developing cerebellum. The abnormality may involve a cerebellar hemisphere, vermis or both.. The etiology of cerebellar hypoplasia is not definitely known. Pathologic evidence of cerebellar injury due to birth asphyxia has been described. Cerebellar hypoplasia associated with hypoplasia or aplasia of the cerebellar or vertebral arteries suggests a vascular etiology. Genetic mutations with somatic mosaicism may also have a role.. Patients with diffuse hypoplasia generally have normal cerebra. The majority of patients with normal cerebra will have few symptoms related to a hypoplastic cerebellum.. ...
http://advancedradteaching.com/teachingfiles/127
Internet Scientific Publications
TSC is a rare, multi-system genetic disease that causes benign tumours to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. A combination of symptoms may include seizures, developmental delay, behavioural problems and skin abnormalities, as well as lung and kidney disease [1-3]. TSC is an autosomal dominant genetic disorder with an incidence of approximately 1 in 5,000 to 10,000 live births [4,5]. However, only one-third of cases are familial [6]. The apparently nonfamilial cases can represent either spontaneous mutations or mosaicism, in which only some germ cells in the affected parent express the mutant gene [6-8]. Some of these parents are asymptomatic, but most have mild abnormalities that can be detected with careful evaluation that is typically performed after TS is diagnosed in the child; the mild phenotype may reflect mosaicism in the somatic cells [8]. Another clue to the presence of mosaicism is when apparently unaffected parents have a ...
http://ispub.com/IJPN/11/2/4228
Correction of a faulty gene in human embryos - Scienmag: Latest Science and Health NewsCorrection of a faulty gene in human embryos - Scienmag: Latest Science and Health News
Previous studies have injected CRISPR-Cas9 after IVF, but faced mosaicism problems, characterized by embryos having a mixture of cells with and without the repaired mutation. Mosaicism would lead to organisms with some tissues or organs that bear the mutations and some that do not. In this study, the researchers injected sperm and CRISPR-Cas9 into the egg at the same time to improve the accuracy of the gene correction. Thanks to this strategy, mosaicism did not occur. CRISPR-Cas9 cut the DNA at the correct position in all tested embryos (100%) and 42 out of the 58 embryos (72.4%) did not carry the hypertrophic cardiomyopathy mutation. In other words, this technique increased the probability of inheriting the healthy gene from 50% to 72.4%. Moreover, while doing this research the scientists also discovered that human embryos have an alternative DNA repair system, where the Cas9-induced cuts in the DNA coming from the sperm are repaired using the healthy eggs DNA as a template. In the remaining ...
https://scienmag.com/correction-of-a-faulty-gene-in-human-embryos/
Can you tell me about a kid with pallister-killian syndrome? - Answered by top doctors on HealthTapCan you tell me about a kid with pallister-killian syndrome? - Answered by top doctors on HealthTap
Dr. Fricke responded: PKS is from a genet-. ic accident that leads to the fetus having usually 2 extra copies of genes on the short arm of Chromosome 12 in some cells of the body & the normal 2 copies in other cells, called mosaicism. It can impact all organ systems & cause profound Intellectual Disability, atypical facial features & abnormal hair growth pattern. See www.rarechromo.org for the PKS support page of the organization Unique.
https://www.healthtap.com/user_questions/1324436-can-you-tell-me-about-a-kid-with-pallister-killian-syndrome
SNU Open Repository and Archive: A clinico-genetic study of renal coloboma syndrome in childrenSNU Open Repository and Archive: A clinico-genetic study of renal coloboma syndrome in children
Renal coloboma syndrome (RCS) is an autosomal dominant disorder caused by PAX2 gene mutations and characterized by renal hypoplasia and optic disc coloboma. The clinical findings were retrospectively reviewed, and all coding regions of the PAX2 gene were sequenced, in six children with RCS. A c.619_620insG mutation was detected in five patients, including two siblings, and a novel p.Arg104X mutation was detected in one patient. All the patients had progressive renal dysfunction and bilateral hypoplastic kidneys without vesicoureteral reflux (VUR), but the rate of progression to end-stage renal disease showed some diversity. The ocular manifestations showed wide variability, ranging from subtle optic disc anomalies to microphthalmia. In one family with two affected siblings, maternal germline mosaicism was suggested by an intragenic microsatellite marker study. In conclusion, there are variable renal and ocular manifestations in RCS without significant phenotype-genotype correlations. VUR is not ...
https://s-space.snu.ac.kr/handle/10371/13455
The Patterns of Genetic Inheritance By Dr. Joann Boughman, PhD Autosomal Dominant Autosomal Recessive X-linked Recessive X...The Patterns of Genetic Inheritance By Dr. Joann Boughman, PhD Autosomal Dominant Autosomal Recessive X-linked Recessive X...
…but dont forget the complicating factors! Non-penetrance New mutation Adult-onset conditions Consanguinity Interaction Sex-limited/sex influenced Germline mosaicism Anticipation Heterogeniety Pleiotropy
http://slideplayer.com/slide/1644021/
GeeKnowType - The Unique Gene Boutique | The DNA ExchangeGeeKnowType - The Unique Gene Boutique | The DNA Exchange
Know thyself, said Socrates. We at GeeKnowType agree - everyone should have access to the personal knowledge hidden deep inside their DNA. But not everyone needs one of those pesky certified genetic specialists to guide them through the maze of genetic testing. Even if you dont fully grasp the subtleties of germline mosaicism or imprinting, you have a fundamental right to learn self-evident truths about yourself.. GeeKnowType, the leading on-line gene boutique, will unlock the treasure chest of your DNA. Discover your innermost desires, dreams, and destinies - so secret that, until now, even you were unaware of them.. With its focus on nonsense mutations, our patented SybilChip® technology will help you realize your full genetic potential. Simply send us a small sample of your brain tissue*, which you can obtain on your own with our free easy to use home neurobiopsy kit. Your confidential genetic profile can be posted on your Facebook wall, imd to your favorite chatroom, or downloaded to ...
https://thednaexchange.com/2010/06/14/geeknowtype-%E2%80%93-the-unique-gene-boutique/
Madm controls synapse development and stability - edocMadm controls synapse development and stability - edoc
I focused on the analysis of a very promising candidate gene, the Mlf1 adapter molecule (Madm). In this study, we implicate for the first time a central role for Madm in the nervous system. Madm is a pseudo kinase which was previously shown to be an adaptor for unknown growth-related signaling pathways in Drosophila (Gluderer S. et al. 2010). We demonstrate that Madm controls multiple aspects of synapse development and refinement at the Drosophila neuromuscular junction (NMJ). First, Drosophila madm mutants displayed prominent synaptic stability and degeneration defects. Second, Madm mutant animals showed severe morphological alterations as well as reduced growth of NMJs. Third, nerves in Madm mutant animals displayed huge swellings and varicosities - a hallmark of neurodegenerative diseases in mammals and humans e.g. in Parkinsons and Alzheimers disease. Fourth, Madm depletion resulted in the accumulation of the presynaptic marker Bruchpilot (BRP) in motoneuron axons. In addition, we could ...
http://edoc.unibas.ch/35128/
O&G Calendar - O&G CUHKO&G Calendar - O&G CUHK
Topic: Multiple-site low-pass genome sequencing for identifying microscopically/ macroscopically chromosomal mosaicism in first-trimester miscarriage. 2. Speaker: Ms Jicheng QIAN from Prof. TY LEUNGs ...
https://www.obg.cuhk.edu.hk/og-calendar/action~agenda/page_offset~-1/time_limit~1630425600/cat_ids~180,400,412,181,358,183,185,394/request_format~html/
O&G Calendar - O&G CUHKO&G Calendar - O&G CUHK
Topic: Multiple-site low-pass genome sequencing for identifying microscopically/ macroscopically chromosomal mosaicism in first-trimester miscarriage. 2. Speaker: Ms Jicheng QIAN from Prof. TY LEUNGs ...
https://www.obg.cuhk.edu.hk/og-calendar/action~agenda/time_limit~1622476800/cat_ids~179,400,358,394,182/request_format~html/
06q163 - Chromosomal Variation in Man - NCBI Bookshelf06q163 - Chromosomal Variation in Man - NCBI Bookshelf
Hsu L Y F, Yu M T, Richkind K E, Van Dyke D L, Crandall B F, Saxe D F, Khodr G S, Mennuti M, Stetten G, Miller W A, Priest J H.: Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study. Prenat. Diag. 16: 1-28, 1996. [PubMed: 8821848 ...
https://www.ncbi.nlm.nih.gov/books/NBK107133/?cmd=ClearHT
Overview: What is mosaic trisomy 8? | ThinkGeneticOverview: What is mosaic trisomy 8? | ThinkGenetic
We each have 46 chromosomes that are separated into 23 pairs. One copy in each pair comes from our mother and one copy in each pair comes from our father. The first 22 pairs of chromosomes are numbered 1 through 22 and are arranged from the largest chromosomes to the smallest chromosomes. The la
https://www.thinkgenetic.com/diseases/mosaic-trisomy-8/overview/727
Klinefelters Syndrome / XXY Males: The Effects of Having an Extra Chromosome in MalesKlinefelters Syndrome / XXY Males: The Effects of Having an Extra Chromosome in Males
Learn how having an extra chromosome produces a genetic disorder known as Klinefelters syndrome, 47,XXY or XXY syndrome. Cause, symptoms and treatment of Klinefelters syndrome
http://www.brighthub.com/science/genetics/articles/10743.aspx
Disease InfoSearch - Chromosome 8, Mosaic Trisomy - Definition, causes, resources and support information
Are you looking for disease information or support? Simply type in the name of a disease or condition and Disease InfoSearch will locate quality information from a database of more than 13,000 diseases and thousands of support groups and foundations.
https://diseaseinfosearch.org/Chromosome+8%2C+Mosaic+Trisomy/1582
Words of Wisdom - Brandons Mosaic Trisomy 18 JourneyWords of Wisdom - Brandons Mosaic Trisomy 18 Journey
Romans 15:13 May the God of hope fill you with all joy and peace as you trust in Him so that you may overflow with hope by the power of the Holy Spirit. ...
https://www.brandonsmt18journey.com/words-of-wisdom.html
Wash Park Prophet: ASGH 2017 AbstractsWash Park Prophet: ASGH 2017 Abstracts
Various sporadic human diseases, ranging from autism spectrum disorders to congenital heart disease and muscular dystrophies, are caused by de novo mutations. In a classical model, these are assumed to occur at a low rate in the parental germ cells (10-4-10-8). Consequently, de novo mutations identified by genetic testing are often assigned a low risk of recurrence in siblings. This idea is increasingly challenged by the detection of mosaicism in the parents. However, previous studies were largely restricted to the analysis of somatic tissues, whose genetic information is, by definition, not transmitted to the next generation. Here, we directly assessed the presence of inherited de novo mutations in paternal sperm and discovered abundant, germline restricted mosaicism. These samples were collected from a panel of fourteen families with a proband presenting with autism spectrum disorder. For all of these a candidate de novomutation had been identified in our ongoing genetic studies of this ...
https://washparkprophet.blogspot.com/2017/10/asgh-2017-abstracts.html
Klinefelters syndrome - Everything2.comKlinefelters syndrome - Everything2.com
What is Klinefelters Syndrome? Klinefelters Syndrome is a genetic disorder first discoverd by Harry Klinefelter in 1942. It is caused by an extra X ch...
https://everything2.com/title/Klinefelter%2527s+syndrome
Amotl2 is essential for cell movements in zebrafish embryo and regulates c-Src translocation.Amotl2 is essential for cell movements in zebrafish embryo and regulates c-Src translocation.
Huang H., Lu F.I., Jia S., Meng S., Cao Y., Wang Y., Ma W., Yin K., Wen Z., Peng J., Thisse C., Thisse B., Meng A.. Angiomotin (Amot), the founding member of the Motin family, is involved in angiogenesis by regulating endothelial cell motility, and is required for visceral endoderm movement in mice. However, little is known about biological functions of the other two members of the Motin family, Angiomotin-like1 (Amotl1) and Angiomotin-like2 (Amotl2). Here, we have identified zebrafish amotl2 as an Fgf-responsive gene. Zebrafish amotl2 is expressed maternally and in restricted cell types zygotically. Knockdown of amotl2 expression delays epiboly and impairs convergence and extension movement, and amotl2-deficient cells in mosaic embryos fail to migrate properly. This coincides with loss of membrane protrusions and disorder of F-actin. Amotl2 partially co-localizes with RhoB-or EEA1-positive endosomes and the non-receptor tyrosine kinase c-Src. We further demonstrate that Amotl2 interacts ...
http://www.uniprot.org/citations/17293535
trisomy 8 mosaicism - Humpath.com - Human pathology
T8M, partial trisomy 8, . Differing proportions of 47,XY, +der(8) and 46 XY were present in the different fetal tissues sampled. The highest proportion of 47,XY,+der(8)
http://www.humpath.com/spip.php?article2090
Wash Park Prophet: 2017Wash Park Prophet: 2017
Various sporadic human diseases, ranging from autism spectrum disorders to congenital heart disease and muscular dystrophies, are caused by de novo mutations. In a classical model, these are assumed to occur at a low rate in the parental germ cells (10-4-10-8). Consequently, de novo mutations identified by genetic testing are often assigned a low risk of recurrence in siblings. This idea is increasingly challenged by the detection of mosaicism in the parents. However, previous studies were largely restricted to the analysis of somatic tissues, whose genetic information is, by definition, not transmitted to the next generation. Here, we directly assessed the presence of inherited de novo mutations in paternal sperm and discovered abundant, germline restricted mosaicism. These samples were collected from a panel of fourteen families with a proband presenting with autism spectrum disorder. For all of these a candidate de novomutation had been identified in our ongoing genetic studies of this ...
http://washparkprophet.blogspot.com/2017/
Letter: Comment on Origin of trisomy: no evidence to support the ovarian mosaicism theoryLetter: Comment on Origin of trisomy: no evidence to support the ovarian mosaicism theory
Linköping University, Department of Clinical and Experimental Medicine, Molecular and Immunological Pathology. Linköping University, Faculty of Health Sciences. Östergötlands Läns Landsting, Centre for Diagnostics, Department of Clinical Pathology and Clinical Genetics. ...
http://liu.diva-portal.org/smash/record.jsf?pid=diva2:580114
HIPAA formHIPAA form
Are there specific concerns about mosaicism, outcome data, etc., and decisions patients might be making? I am very comfortable with this literature, and focus on evidence-based patient decision-making. But it is also good to know how the physicians would like me to represent their philosophies and their willingness to transfer embryos at risk for mosaicism and embryos with aneuploidies. If the physician has a specific practice policy on these issues, Id love to know about it in advance.. ...
https://form.jotform.com/70185192676160
Brain Discovery Explains A Great Mystery of Alzheimers and Parkinsons - Neuroscience NewsBrain Discovery Explains A Great Mystery of Alzheimers and Parkinsons - Neuroscience News
The new research suggests that the cells may die because of naturally occurring gene variation in brain cells that were, until recently, assumed to be genetically identical. This variation - called somatic mosaicism - could explain why neurons in the temporal lobe are the first to die in Alzheimers, for example, and why dopaminergic neurons are the first to die in Parkinsons.. This has been a big open question in neuroscience, particularly in various neurodegenerative diseases, said neuroscientist Michael McConnell, PhD, of UVAs Center for Brain Immunology and Glia (BIG). What is this selective vulnerability? What underlies it? And so now, with our work, the hypotheses moving forward are that it could be that different regions of the brain actually have a different garden of these [variations] in young individuals and that sets up different regions for decline later in life.. A Most Unexpected Outcome. The finding emerged unexpectedly from McConnells investigations into schizophrenia. ...
https://neurosciencenews.com/somatic-mosaicism-alzheimers-10748/
Re: Rainbow hair | Health24Re: Rainbow hair | Health24
I am thinking of mosaicism as tortoise shell cats have x-chromosome mosaicism which leads to their multicolored fur. Ever since my middle sons birth I have had a nagging feeling that he has a chromosomal or gene defect or anomalie. We have contacted the geneticist at Tygerberg, and she will evaluate him, but its a big step and can add more worry that resolution. Luckily at least he certainly does not have Waardenburg ...
http://www.health24.com/Medical/childhood-diseases/Experts/Question/re-rainbow-hair-20120904
modulomodulo
Variegation in Drosophila is a manifest illustration of the important role played by chromatin structure in gene expression. Mutants of modulo (mod) have been isolated and this gene is shown to be a dominant suppressor of variegation. Null mutants are recessive lethal with a melanotic tumour phenotype. The mod protein directly binds DNA, which indicates that it may serve to anchor multimeric complexes promoting chromatin compaction and silencing (Garzino, 1992). To analyse the consequences of mod loss of function in mitotically active cells of the imaginal disc, clones of cells homozygous for the null allele A4-4L8 were generated by FLP-mediated recombination. In these experiments, clones were identified on the adult epidermis of mosaic animals by the loss of yellow and Stubble bristle markers. mod-deficient clones were found in adult flies on head, thorax, legs and abdomen. They present three main features: (1) they are systematically of reduced size when compared to controls (wild-type clones ...
https://www.sdbonline.org/sites/fly/polycomb/modulo4.htm
PentaPlot: A software tool for the illustration of genome mosaicism | BMC Bioinformatics | Full TextPentaPlot: A software tool for the illustration of genome mosaicism | BMC Bioinformatics | Full Text
Dekapentagonal maps depict the phylogenetic relationships of five genomes in a visually appealing diagram and can be viewed as an alternative to a single evolutionary consensus tree. In particular, the generated maps focus attention on those gene families that significantly deviate from the consensus or plurality phylogeny. PentaPlot is a software tool that computes such dekapentagonal maps given an appropriate probability support matrix. The visualization with dekapentagonal maps critically depends on the optimal layout of unrooted tree topologies representing different evolutionary relationships among five organisms along the vertices of the dekapentagon. This is a difficult optimization problem given the large number of possible layouts. At its core our tool utilizes a genetic algorithm with demes and a local search strategy to search for the optimal layout. The hybrid genetic algorithm performs satisfactorily even in those cases where the chosen genomes are so divergent that little phylogenetic
https://bmcbioinformatics.biomedcentral.com/articles/10.1186/1471-2105-6-139
Germline mosaicismGermline mosaicism
... , also called gonadal mosaicism, is a type of genetic mosaicism where more than one set of genetic ... Pure germline mosaicism refers to mosaicism found exclusively in the gametes and not in any somatic cells. Germline mosaicism ... somatic mosaicism is a type of genetic mosaicism found in somatic cells. Germline mosaicism can be present at the same time as ... Germinal mosaicism in Noonan syndrome: A family with two affected siblings of normal parents. Am J Med Genet Part A 152A:2850- ...
https://en.wikipedia.org/wiki/Germline_mosaicism
Confined placental mosaicismConfined placental mosaicism
"Risk of fetal mosaicism when placental mosaicism is diagnosed by chorionic villus sampling". American Journal of Obstetrics and ... "Molecular cytogenetic detection of confined gonadal mosaicism in a conceptus with trisomy 16 placental mosaicism". American ... This type of mosaicism is most often associated with normal pregnancy outcome. Type 2 CPM- The error occurs in a non-fetal cell ... This type of mosaicism is described in normal pregnancies and is sometimes associated with delayed growth of the fetus. Type 3 ...
https://en.wikipedia.org/wiki/Confined_placental_mosaicism
Calico catCalico cat
"Mosaicism". Genetics. New York: Macmillan Reference USA, 2003. 76-80. Trent, Courtney (16 March 2022). "Are All Calico Cats ...
https://en.wikipedia.org/wiki/Calico_cat
Non-Mendelian inheritanceNon-Mendelian inheritance
"Lesson 3: Mosaicism". Retrieved 2007-10-16. "Genetics of Calico Color". "Genetic Mosaicism". Retrieved 2007-10-28. "Lesson 1: ... Mosaicism also results from a phenomenon known as X-inactivation. All female mammals have two X chromosomes. To prevent lethal ...
https://en.wikipedia.org/wiki/Non-Mendelian_inheritance
Diploid triploid mosaicDiploid triploid mosaic
Having two or more different cell types is called mosaicism. Diploid-triploid mosaicism can be associated with truncal obesity ... Diploid-triploid mosaicism (DTM) is a chromosome disorder. Individuals with diploid-triploid syndrome have some cells with ... "Diploid-triploid mosaicism". Genetic and Rare Diseases Information Center (GARD). 22 March 2010. Retrieved 31 March 2014. " ... Those with diploid triploid mosaicism have some cells which are triploid, meaning that they have three copies of chromosomes, ...
https://en.wikipedia.org/wiki/Diploid_triploid_mosaic
Angelo MaffucciAngelo Maffucci
This situation is called mosaicism. The frequency and cruelty of tuberculosis disease at the end of the 800 will lead him to ...
https://en.wikipedia.org/wiki/Angelo_Maffucci
Blaschkos linesBlaschko's lines
The lines are not unique to humans and can be observed in other non-human animals with mosaicism. Alfred Blaschko is credited ... Moss C, Larkins S, Stacey M, Blight A, Farndon PA, Davison EV (September 1993). "Epidermal mosaicism and Blaschko's lines". ... Molho-Pessach, Vered; Schaffer, Julie V. (2011-03-01). "Blaschko lines and other patterns of cutaneous mosaicism". Clinics in ... Molho-Pessach V, Schaffer JV (2011-03-01). "Blaschko lines and other patterns of cutaneous mosaicism". Clinics in Dermatology. ...
https://en.wikipedia.org/wiki/Blaschko's_lines
Ring chromosome 20 syndromeRing chromosome 20 syndrome
This mixture is called mosaicism. A higher degree[clarification needed] (percentage) of mosaicism appears to be associated with ... Yet, the degree of mosaicism does not determine response to drug treatment. Since the range in age of onset of seizures and IQ ... The ring 20 abnormality may be limited to as few as 5% of cells, so a screen for chromosomal mosaicism is critical. Newer array ... When not all cells contain a ring chromosome 20, the individual has ring 20 chromosomal mosaicism. Ring Chromosome 20 syndrome ...
https://en.wikipedia.org/wiki/Ring_chromosome_20_syndrome
AnophthalmiaAnophthalmia
This is called germline mosaicism. There are at least 33 mutations in the Sox2 gene that have been known to cause anophthalmia ...
https://en.wikipedia.org/wiki/Anophthalmia
Cell-free fetal DNACell-free fetal DNA
... maternal chromosomes may have mosaicism. A number of fetal nucleic acid molecules derived from aneuploid chromosomes can be ...
https://en.wikipedia.org/wiki/Cell-free_fetal_DNA
Osteogenesis imperfectaOsteogenesis imperfecta
The cause is genetic mosaicism; that is, some of, or most of, the germ cells of one parent have a dominant form of OI, but not ... of cases of OI types II and III are attributable to genetic mosaicism.: 532 People with OI are either born with defective ... that their future children will have OI due to genetic mosaicism.: 100, 1513 The disability rights critique of prenatal ... parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance". Genetics in Medicine. ...
https://en.wikipedia.org/wiki/Osteogenesis_imperfecta
PHACE syndromePHACE syndrome
Thorpe, Jeremy; Osei-Owusa, Ikeoluwa; Erlanger Avigdor, Bracha; Tupler, Rossella; Pevsner, Jonathan (2022-09-11). "Mosaicism in ...
https://en.wikipedia.org/wiki/PHACE_syndrome
Most recent common ancestorMost recent common ancestor
"Genome mosaicism and organismal lineages" (PDF). Trends in Genetics. 20 (5): 254-60. CiteSeerX 10.1.1.530.7843. doi:10.1016/j. ...
https://en.wikipedia.org/wiki/Most_recent_common_ancestor
Eukaryote hybrid genomeEukaryote hybrid genome
June 2017). "The genomic mosaicism of hybrid speciation". Science Advances. 3 (6): e1602996. Bibcode:2017SciA....3E2996E. doi: ...
https://en.wikipedia.org/wiki/Eukaryote_hybrid_genome
Neuron derived neurotrophic factorNeuron derived neurotrophic factor
Utine GE, Aktas D (2006). "Mosaicism for terminal deletion of 4q". Genet. Couns. 17 (2): 205-9. PMID 16970039. Kalsi G, Kuo PH ...
https://en.wikipedia.org/wiki/Neuron_derived_neurotrophic_factor
RPS6KA3RPS6KA3
Jacquot S, Merienne K, Pannetier S, Blumenfeld S, Schinzel A, Hanauer A (1999). "Germline mosaicism in Coffin-Lowry syndrome". ...
https://en.wikipedia.org/wiki/RPS6KA3
Turner syndromeTurner syndrome
Mosaicism affects height in Turner syndrome; a large population sample drawn from the UK Biobank found women with 45,X0 ... The chromosomal abnormality is often present in just some cells, in which case it is known as TS with mosaicism. In these cases ... The phenotype of Turner syndrome is affected by mosaicism, where cell lines with a single sex chromosome are combined with ... Kidney malformations in Turner syndrome may be more common in mosaicism than in the full 45,X0 karyotype. Serious complications ...
https://en.wikipedia.org/wiki/Turner_syndrome
BlastomereBlastomere
This disorder is called "numerical mosaicism". This mosaicism, especially of diploidy and polyploidy, can lead to the failure ... Over time many specialists have switched to blastocyst biopsies, which provide a lower level of mosaicism, but blastomere ...
https://en.wikipedia.org/wiki/Blastomere
Waardenburg Syndrome Type 1Waardenburg Syndrome Type 1
Kapur, Saroj; Karam, Susan (1991). "Germ-line mosaicism in Waardenburg syndrome". Clinical Genetics. 39 (3): 194-198. doi: ...
https://en.wikipedia.org/wiki/Waardenburg_Syndrome_Type_1
Malva vein clearing virusMalva vein clearing virus
MVCV causes vein clearing and yellow mosaicism. This virus has been reported from Tasmania, Brazil, the former Czechoslovakia, ...
https://en.wikipedia.org/wiki/Malva_vein_clearing_virus
Myotubularin 1Myotubularin 1
Häne BG, Rogers RC, Schwartz CE (1999). "Germline mosaicism in X-linked myotubular myopathy". Clin. Genet. 56 (1): 77-81. doi: ...
https://en.wikipedia.org/wiki/Myotubularin_1
Trisomy 8Trisomy 8
Complete trisomy 8 is usually an early lethal condition, whereas trisomy 8 mosaicism is less severe and individuals with a low ... Individuals with trisomy 8 mosaicism are more likely to survive into childhood and adulthood, and exhibit a characteristic and ... Trisomy 8 mosaicism affects wide areas of chromosome 8 containing many genes, and can thus be associated with a range of ... It can appear with or without mosaicism. Complete trisomy 8 causes severe effects on the developing fetus and can be a cause of ...
https://en.wikipedia.org/wiki/Trisomy_8
Glossary of genetics (0-L)Glossary of genetics (0-L)
It is similar to but distinct from mosaicism. chloroplast DNA (cpDNA, chDNA, ctDNA) The set of DNA molecules contained within ...
https://en.wikipedia.org/wiki/Glossary_of_genetics_(0–L)
MYH9MYH9
Kunishima S, Takaki K, Ito Y, Saito H (April 2009). "Germinal mosaicism in MYH9 disorders: a family with two affected siblings ... Kunishima S, Kitamura K, Matsumoto T, Sekine T, Saito H (June 2014). "Somatic mosaicism in MYH9 disorders: the need to ... Sporadic forms mainly derive from de novo mutations; rare cases have been explained by germinal or somatic mosaicism. The ... "First description of somatic mosaicism in MYH9 disorders". British Journal of Haematology. 128 (3): 360-5. doi:10.1111/j.1365- ...
https://en.wikipedia.org/wiki/MYH9
Trisomy XTrisomy X
Mosaicism with a tetrasomy X cell line generally appears more severe than typical trisomy X. Like trisomy X, tetrasomy X has a ... Mosaicism, where both 47,XXX and other cell lines are present, occurs in approximately 10% of cases. Mosaic trisomy X has ... Tang R, Lin L, Guo Z, Hou H, Yu Q (July 2019). "Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: A case report ... Women with the mosaicism experience premature ovarian failure; the average age of menopause in these women is around 30, with ...
https://en.wikipedia.org/wiki/Trisomy_X
SOX11SOX11
DesGroseilliers M, Fortin F, Lemyre E, Lemieux N (2006). "Complex mosaicism in sex reversed SRY+ male twins". Cytogenetic and ...
https://en.wikipedia.org/wiki/SOX11
Postzygotic mutationPostzygotic mutation
Mosaicism is the occurrence of two or more cell lines with different genotypes within a single individual. It is different from ... Hultén, Maj A.; Jonasson, Jon; Nordgren, Ann; Iwarsson, Erik (2010-09-01). "Germinal and Somatic Trisomy 21 Mosaicism: How ... Youssoufian, Hagop; Pyeritz, Reed E. (2002-10-01). "Mechanisms and consequences of somatic mosaicism in humans". Nature Reviews ...
https://en.wikipedia.org/wiki/Postzygotic_mutation
Trisomy 16Trisomy 16
ISBN 978-0-07-143900-8. Benn, Peter (1998-09-01). "Trisomy 16 and trisomy 16 mosaicism: A review". American Journal of Medical ... 2006). "Postnatal follow-up of prenatally diagnosed trisomy 16 mosaicism". Prenatal Diagnosis. 26 (6): 548-558. doi:10.1002/pd. ... and pathogenesis of trisomy 16 mosaicism". Journal of Medical Genetics. 40 (3): 175-82. doi:10.1136/jmg.40.3.175. PMC 1735382. ...
https://en.wikipedia.org/wiki/Trisomy_16
Copy number variationCopy number variation
Rohrback S, Siddoway B, Liu CS, Chun J (November 2018). "Genomic mosaicism in the developing and adult brain". Developmental ...
https://en.wikipedia.org/wiki/Copy_number_variation
Glossary of geneticsGlossary of genetics
mosaicism The presence of two or more populations of cells with different genotypes in an individual organism which has ... Mosaicism is similar to but distinct from chimerism. motif Any distinctive or recurring sequence of nucleotides in a nucleic ... It is similar to but distinct from mosaicism. chloroplast DNA (cpDNA, chDNA, ctDNA) The set of DNA molecules contained within ...
https://en.wikipedia.org/wiki/Glossary_of_genetics
Mosaicism: MedlinePlus Medical EncyclopediaMosaicism: MedlinePlus Medical Encyclopedia
Mosaicism is a condition in which cells within the same person have a different genetic makeup. This condition can affect any ... Mosaicism is caused by an error in cell division very early in the development of the unborn baby. Examples of mosaicism ... Mosaicism is a condition in which cells within the same person have a different genetic makeup. This condition can affect any ... A diagnosis of mosaicism may cause confusion and uncertainty. A genetic counselor may help answer any questions about diagnosis ...
https://medlineplus.gov/ency/article/001317.htm
Browsing by Subject MosaicismBrowsing by Subject "Mosaicism"
Mosaicism 47, XXY / 46, XX and abnormal sexual differentiation: report of a case  ...
https://extranet.who.int/iris/restricted/browse?authority=Mosaicism&type=mesh
What Is Trisomy 8 Mosaicism Syndrome?What Is Trisomy 8 Mosaicism Syndrome?
What is trisomy 8 mosaicism?. Trisomy 8 mosaicism syndrome (T8mS) is a condition that affects human chromosomes. Specifically, ... Trisomy 8 Mosaicism Syndrome. Medically reviewed by Suzanne Falck, M.D., FACP - By Amber Erickson Gabbey - Updated on April 21 ... Treating trisomy 8 mosaicism. There is no cure for T8mS, but some symptoms of the condition may be treated. Treatment will vary ... Trisomy 8 mosaicism prognosis. If most or all cells have the extra chromosome, the condition is known as full or complete ...
https://www.healthline.com/health/trisomy-8-mosaicism-syndrome
Mosaicism 47, XXY / 46, XX and abnormal sexual differentiation: report of a caseMosaicism 47, XXY / 46, XX and abnormal sexual differentiation: report of a case
... ... Lyhyaoui, O. & Gaouzi, A. (‎2014)‎. Mosaicism 47, XXY / 46, XX and abnormal sexual differentiation: report of a case. http:// ...
https://apps.who.int/iris/handle/10665/250685
SFARI | Somatic mosaicism in autism spectrum disordersSFARI | Somatic mosaicism in autism spectrum disorders
Mayo Clinic Somatic mosaicism, or the emergence of variations in the sequence or structure of the… ... Somatic mosaicism in autism spectrum disorders on SFARI ... Somatic mosaicism in autism spectrum disorders. * *Share This. ... Somatic mosaicism, or the emergence of variations in the sequence or structure of the genome of somatic cells, has been ... In the current project, Flora Vaccarino and Alexej Abyzov aim to assess the role of somatic mosaicism in autism spectrum ...
https://www.sfari.org/funded-project/somatic-mosaicism-in-autism-spectrum-disorders/
Epidermal mosaicism and Blaschkos lines. | Journal of Medical GeneticsEpidermal mosaicism and Blaschko's lines. | Journal of Medical Genetics
... we studied the distribution of chromosomal mosaicism in four patients. In two, mosaicism had not been detected in lymphocytes ... Negative findings in the other two patients might be because of mosaicism which was undetected either because it was ... To test the hypothesis that epidermal rather than dermal mosaicism determines Blaschkos lines in hypomelanosis of Ito (HI), ... in patients with HI and severe neurological involvement mosaicism, if detectable, is best shown in keratinocytes; and (3) the ...
https://jmg.bmj.com/content/30/9/752?ijkey=e4c77381781a5b311bfae8b7e7bd75b1a3038e08&keytype2=tf_ipsecsha
Large, three-generation CEPH families reveal post-zygotic mosaicism and variability in germline mutation accumulation | bioRxivLarge, three-generation CEPH families reveal post-zygotic mosaicism and variability in germline mutation accumulation | bioRxiv
Large, three-generation CEPH families reveal post-zygotic mosaicism and variability in germline mutation accumulation. View ... Large, three-generation CEPH families reveal post-zygotic mosaicism and variability in germline mutation accumulation ... Large, three-generation CEPH families reveal post-zygotic mosaicism and variability in germline mutation accumulation ... Large, three-generation CEPH families reveal post-zygotic mosaicism and variability in germline mutation accumulation ...
https://www.biorxiv.org/content/10.1101/552117v1
Retinal mosaicism in a girl with an X-Y translocation | British Journal of OphthalmologyRetinal mosaicism in a girl with an X-Y translocation | British Journal of Ophthalmology
Download the citation for this article by clicking on one of the following citation managers:. ...
https://bjo.bmj.com/content/97/2/243.citation-tools
Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism...Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism...
To date, only a few systematic analyses of low-level parental somatic mosaicism have be … ... Detection of low-level somatic mosaicism [alternate allele fraction (AAF) ≤ 10%] in parents of affected individuals with the ... To date, only a few systematic analyses of low-level parental somatic mosaicism have been performed. Herein, highly sensitive ... Detection of low-level somatic mosaicism [alternate allele fraction (AAF) ≤ 10%] in parents of affected individuals with the ...
https://pubmed.ncbi.nlm.nih.gov/32036090/
The role of somatic mosaicism in brain disease<...
Jourdon, A., Fasching, L., Scuderi, S., Abyzov, A., & Vaccarino, F. M. (2020). The role of somatic mosaicism in brain disease. ... Jourdon, A, Fasching, L, Scuderi, S, Abyzov, A & Vaccarino, FM 2020, The role of somatic mosaicism in brain disease, Current ... The role of somatic mosaicism in brain disease. Current Opinion in Genetics and Development. 2020 Dec;65:84-90. doi: 10.1016/j. ... The role of somatic mosaicism in brain disease. Alexandre Jourdon, Liana Fasching, Soraya Scuderi, Alexej Abyzov, Flora M. ...
https://mayoclinic.pure.elsevier.com/en/publications/the-role-of-somatic-mosaicism-in-brain-disease
What is embryo mosaicism?What is embryo mosaicism?
Embryo mosaicism means that the embryo has a mixture of chromosomally normal and abnormal cells (in one or several chromosomes ... The patient should be made aware of the nature of the mosaicism and any specific risk that may exist in each case - such risks ... A phenomenon that occurs in human embryos known as chromosomal mosaicism has been described since techniques such as these for ... It is estimated that 20% of human embryos have chromosomal mosaicism. The abnormal cells in a given chromosome can go from 20% ...
https://www.institutobernabeu.com/en/blog/what-is-embryo-mosaicism/
Trisomy 20 mosaicism - a subtle phenotype | NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL
Mosaicism, phenotype, trisomy 20 Abstract. Introduction: Trisomy 20 mosaicism is one of the most common cytogenetic ... Trisomy 20 mosaicism - a subtle phenotype Authors. * Inês Medeiros Department of Pediatrics, Hospital de Braga ... Keratinocyte cytogenetics in 10 patients with pigmentary mosaicism: identification of one case of trissomy 20 mosaicism ... Beke A, Tóth-Pál E, Hargitai B, Szigeti Z, Papp C, Papp Z. Trissomy 20 mosaicism and nonmosaic trissomy 20: a report of 2 cases ...
https://revistas.rcaap.pt/nascercrescer/article/view/11686?articlesBySameAuthorPage=2
Comparative Genome Analysis of Listeria Bacteriophages Reveals Extensive Mosaicism, Programmed Translational Frameshifting, and...Comparative Genome Analysis of Listeria Bacteriophages Reveals Extensive Mosaicism, Programmed Translational Frameshifting, and...
Comparative Genome Analysis of Listeria Bacteriophages Reveals Extensive Mosaicism, Programmed Translational Frameshifting, and ... Comparative Genome Analysis of Listeria Bacteriophages Reveals Extensive Mosaicism, Programmed Translational Frameshifting, and ...
https://www.research-collection.ethz.ch/handle/20.500.11850/16217?show=full
Double somatic mosaicism in a child with Dravet syndrome | Neurology GeneticsDouble somatic mosaicism in a child with Dravet syndrome | Neurology Genetics
Double somatic mosaicism in a child with Dravet syndrome. Alison M. Muir, Chontelle King, Amy L. Schneider, Aman S. Buttar, ... Double somatic mosaicism in a child with Dravet syndrome. Alison M. Muir, Chontelle King, Amy L. Schneider, Aman S. Buttar, ...
https://ng.neurology.org/content/5/3/e333/tab-article-info
Down Syndrome Treatment & Management: Approach Considerations, Surgical Care, Diet and ActivityDown Syndrome Treatment & Management: Approach Considerations, Surgical Care, Diet and Activity
Mosaicism. Most patients with mosaic Down syndrome were once trisomy 21 zygotes. The phenotype varies and possibly reflects the ... In rare instances, low-level mosaicism in the germinal tissue of a parent is postulated to be the cause of having more than one ... Ringman JM, Rao N, Lu PH, Cederbaum S. Mosaicism for trisomy 21 in a patient with young-onset dementia. A case report and brief ... Papavassiliou P, York TP, Gursoy N, Hill G, Nicely LV, Sundaram U. The phenotype of persons having mosaicism for trisomy 21/ ...
https://www.medscape.com/answers/943216-181171/what-is-the-risk-for-recurrence-of-down-syndrome-in-mothers-and-siblings-of-a-patient-with-down-syndrome
Down Syndrome Clinical Presentation: History, Physical Examination, ComplicationsDown Syndrome Clinical Presentation: History, Physical Examination, Complications
Trisomy 21 mosaicism. Trisomy 21 mosaicism can present with absent or minimal manifestations of Down syndrome and may be ... Ringman JM, Rao N, Lu PH, Cederbaum S. Mosaicism for trisomy 21 in a patient with young-onset dementia. A case report and brief ... Papavassiliou P, York TP, Gursoy N, Hill G, Nicely LV, Sundaram U. The phenotype of persons having mosaicism for trisomy 21/ ... 58] The phenotype of persons having mosaicism for trisomy 21 and Down syndrome reflects the percentage of trisomic cells ...
https://emedicine.medscape.com/article/943216-clinical
Many viable IVF embryos not implanted due to mosaicismMany viable IVF embryos not implanted due to mosaicism
Registered Office: Ground Floor, Cromwell House, 15 Andover Road, Winchester, Hampshire ...
https://frontlinegenomics.com/tag/ivf/
DHDD Newsletter - December 2021 | Human Development and Disability | NCBDDD | CDCDHDD Newsletter - December 2021 | Human Development and Disability | NCBDDD | CDC
The American Journal of Medical Genetics (Part A) recently published a study that looked at mosaicism in males with fragile X ... However, some males with FXS have what is called "methylation mosaicism" which means that some, though not all, of their cells ... More research needs to be done, but knowing more about how FXS differs in people with and without methylation mosaicism may ... In this study, participants with methylation mosaicism tended to have less severe intellectual disability and better social and ...
https://www.cdc.gov/ncbddd/humandevelopment/newsletters/2021-december.html
IMSEAR at SEARO: A true hermaphrodite with XX-XY mosaicism.
A true hermaphrodite with XX-XY mosaicism. Indian Journal of Medical Research. 1971 Jan; 59(1): 104-6. ...
https://imsear.searo.who.int/handle/123456789/19841
mosaic-ism - Collection | OpenSeamosaic-ism - Collection | OpenSea
Divide the artwork into several parts to express the details of the artwork. You can zoom in on the details. The divided parts are gathered together to form an artwork.
https://opensea.io/collection/mosaic-ism/activity?search%5BeventTypes%5D%5B0%5D=AUCTION_CREATED
Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia...Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia...
The reversion of genomic duplication to the WT allele results in somatic mosaicism and may explain the relatively milder ... The DEB diagnostic test for FA revealed somatic mosaicism. We identified a 9154 bp intragenic duplication in FANCB, covering ... Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia ... The reversion of genomic duplication to the WT allele results in somatic mosaicism and may explain the relatively milder ...
https://www.pacb.com/publications/somatic-mosaicism-of-an-intragenic-fancb-duplication-in-both-fibroblast-and-peripheral-blood-cells-observed-in-a-fanconi-anemia-patient-leads-to-milder-phenotype/
Evidence that differences between embryology laboratories can influence the rate of mitotic errors, leading to increased...
... leading to increased chromosomal mosaicism, with significant implications for IVF success rates ... leading to increased chromosomal mosaicism, with significant implications for IVF success rates ...
https://www.wrh.ox.ac.uk/publications/962989
The spectrum of 45,X/46,XY mosaicism in Taiwanese children: The experience of a single center - 指紋 - 臺北醫學大學
深入研究「The spectrum of 45,X/46,XY mosaicism in Taiwanese children: The experience of a single center」主題。共同形成了獨特的指紋。 ... The spectrum of 45,X/46,XY mosaicism in Taiwanese children: The experience of a single center. ...
https://tmu.pure.elsevier.com/zh/publications/the-spectrum-of-45x46xy-mosaicism-in-taiwanese-children-the-exper/fingerprints/
Quote | Mosaicism Down Syndrome is Real
There was no one near to confuse me, so I was forced to become original ...
https://www.mosaicdownsydmom.com/quote
Developmental and temporal characteristics of clonal sperm mosaicism | RCIGMDevelopmental and temporal characteristics of clonal sperm mosaicism | RCIGM
Clonal mosaicism likely contributes a transmissible, predicted pathogenic exonic variant for 1 in 15 men, representing a life- ... Developmental and temporal characteristics of clonal sperm mosaicism. Cell. 2021 Aug 7:S0092-8674(21)00883-7. doi: 10.1016/j. ... Throughout development and aging, human cells accumulate mutations resulting in genomic mosaicism and genetic diversity at the ...
https://radygenomics.org/rss_publications/developmental-and-temporal-characteristics-of-clonal-sperm-mosaicism/
In This Issue | Genetics in MedicineIn This Issue | Genetics in Medicine
Somatic mosaicism has been implicated in a range of genetic conditions from seizures to cancer. Although research studies and ... Now, Gambin and colleagues have developed an approach to identify low- and very low-level parental somatic mosaicism from ES ... The average VAF was 3% but ranged from less than 1% to 9%. The validation analyses confirmed somatic mosaicism in 33% of ... The authors conclude that the computational approach described is able to efficiently and robustly detect low-level mosaicism ...
https://www.nature.com/articles/s41436-020-00999-6?error=cookies_not_supported&code=34e7cf7d-5143-4cd0-ae2b-e5fba99a6b93
No genomic mosaicism in a putative hybrid butterfly species - Kronforst LabNo genomic mosaicism in a putative hybrid butterfly species - Kronforst Lab
No genomic mosaicism in a putative hybrid butterfly species. Kronforst, M. R., C. Salazar, M. Linares and L. E. Gilbert. 2007. ... No genomic mosaicism in a putative hybrid butterfly species. May 1, 2007. /in p {display: inline; font-size: 1.1em; font-weight ... No genomic mosaicism in a putative hybrid butterfly species. Proc. R. Soc. B 274: 1255-1264. ... 23No genomic mosaicism in a putative hybrid butterfly species. ...
https://kronforstlab.org/publication/no-genomic-mosaicism-in-a-putative-hybrid-butterfly-species/
Katherine Foley, Author atKatherine Foley, Author at
FOLEY: Mosaicism: A Genetic Puzzle. September 27, 2013. by Katherine Foley Leave a Comment ...
https://thehoya.com/author/katherine-foley/
A novel mutation of MSX1 inherited from maternal mosaicism causes a severely affected child with nonsyndromic oligodontia. |...A novel mutation of MSX1 inherited from maternal mosaicism causes a severely affected child with nonsyndromic oligodontia. |...
Our study also suggests that the determination of the mosaicism is essential for precise genetic counseling if a disease ... A novel mutation of MSX1 inherited from maternal mosaicism causes a severely affected child with nonsyndromic oligodontia.. Ma ...
https://pesquisa.bvsalud.org/odontologia/resource/pt/mdl-31469409
Detection of low‐grade mosaicism in fetal cells isolated from maternal blood<...Detection of low‐grade mosaicism in fetal cells isolated from maternal blood<...
Detection of low‐grade mosaicism in fetal cells isolated from maternal blood. / Bischoff, Farideh Z.; Lewis, Dorothy E.; ... Detection of low‐grade mosaicism in fetal cells isolated from maternal blood. Prenatal Diagnosis. 1995 Jan 1;15(12):1182-1184. ... Detection of low‐grade mosaicism in fetal cells isolated from maternal blood. In: Prenatal Diagnosis. 1995 ; Vol. 15, No. 12. ... We report the observation of 46, XY/47, XXY mosaicism in fetal cells from a woman whose first‐trimester chorionic villus ...
https://scholars.houstonmethodist.org/en/publications/detection-of-lowgrade-mosaicism-in-fetal-cells-isolated-from-mate
SomaticChromosomalGeneticChromosomeTrisomy 21Pigmentary mosaicismAlleleSyndromeClonalInherited from maternalAbnormalNovoEmbryosPhenotypeDetectionExtentDetectRevealDiagnosisCellsPatientCasesHumanChildCellSkinLevelPatients
Somatic15
  • Somatic mosaicism, or the emergence of variations in the sequence or structure of the genome of somatic cells, has been detected in both healthy individuals and individuals with various diseases, particularly cancer. (sfari.org)
  • In the current project, Flora Vaccarino and Alexej Abyzov aim to assess the role of somatic mosaicism in autism spectrum disorder (ASD). (sfari.org)
  • Using this model, the researchers plan to study somatic mosaicism across the genomes of three individuals with ASD and three unaffected individuals. (sfari.org)
  • This project provides an experimental system for an unbiased assessment of the extent of somatic mosaicism in cells derived from individuals with ASD, and will help provide a greater understanding of the array of genetic contributions leading to this complex disorder. (sfari.org)
  • Detection of low-level somatic mosaicism [alternate allele fraction (AAF) ≤ 10%] in parents of affected individuals with the apparent de novo pathogenic variants enables more accurate estimate of recurrence risk. (nih.gov)
  • To date, only a few systematic analyses of low-level parental somatic mosaicism have been performed. (nih.gov)
  • Because the ratio of parental somatic mosaicism have significant implications for the recurrence risk, this study further implies the importance of a systematic screening of parental samples for low-level and very-low-level (AAF ≤ 1%) somatic mosaicism using methods that are more sensitive than those routinely applied in diagnostics. (nih.gov)
  • In this review we discuss the importance of genetic somatic mosaicism and its impact on brain diseases. (elsevier.com)
  • Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype. (pacb.com)
  • Somatic mosaicism has been implicated in a range of genetic conditions from seizures to cancer. (nature.com)
  • As a result, standard ES pipelines may miss low-level somatic mosaicism. (nature.com)
  • Now, Gambin and colleagues have developed an approach to identify low- and very low-level parental somatic mosaicism from ES samples, and they show that apparent de novo variants in affected probands can have parental origins. (nature.com)
  • The validation analyses confirmed somatic mosaicism in 33% of samples from the BHCMG cohort and 20% of samples from the BG cohort. (nature.com)
  • The presence of intra-individual genomic diversity in neurons and other brain cells, known as brain somatic mosaicism, has gone largely unnoticed and unappreciated historically. (virginia.edu)
  • In brief, our work demonstrates the value of large datasets in constructing a rigorous CNV detection pipeline, documents the prevalence and characteristics of mosaic CNVs in the brain, and contributes insights to our understanding of the causes and consequences of somatic mosaicism in the brain. (virginia.edu)
Chromosomal5
  • To test the hypothesis that epidermal rather than dermal mosaicism determines Blaschko's lines in hypomelanosis of Ito (HI), we studied the distribution of chromosomal mosaicism in four patients. (bmj.com)
  • A phenomenon that occurs in human embryos known as chromosomal mosaicism has been described since techniques such as these for embryo chromosome diagnosis have been in use. (institutobernabeu.com)
  • It is estimated that 20% of human embryos have chromosomal mosaicism. (institutobernabeu.com)
  • Should embryos with chromosomal mosaicism be rejected? (institutobernabeu.com)
  • Jackson wished to inspire interaction between dermatologists who saw Blaschko's lines in patients, and developmental biologists studying embryology and chromosomal abnormalities such as mosaicism. (wikipedia.org)
Genetic11
  • Mosaicism is a condition in which cells within the same person have a different genetic makeup. (medlineplus.gov)
  • Genetic testing can diagnose mosaicism. (medlineplus.gov)
  • In support of this idea, past genetic analyses of individuals with ASD indicate an increased incidence of de novo variants, with mosaicism even being detected in the proband's blood in some studies 1 . (sfari.org)
  • Throughout development and aging, human cells accumulate mutations resulting in genomic mosaicism and genetic diversity at the cellular level. (radygenomics.org)
  • Our study also suggests that the determination of the mosaicism is essential for precise genetic counseling if a disease appears to arise de novo. (bvsalud.org)
  • Based on this hypothesis, Zlotnikov suggested that the only probable explanation for the sagittal asymmetry of the disease was a genetic mosaicism in the patient. (wikipedia.org)
  • Since that year, Scientists have continually explored the developmental hypothesis for the origins of Blaschko's lines, having found biological evidence to support the theory and linking the lines to other mosaicism and genetic-development related conditions and phenomena of the skin. (wikipedia.org)
  • Characterization of large structural genetic mosaicism in human autosome. (cdc.gov)
  • Exome sequencing, using patients' blood and skin samples, may be a first choice for detecting causative genetic variants of pigmentary mosaicism. (medscape.com)
  • Much sought after facilities for diagnosis and evaluation of genetic disorders like epidermolysis bullosa, pigment mosaicism and so on are available with us. (shreejiskincare.com)
  • [ 4 , 5 ] Although sex chromosome abnormalities usually present with primary amenorrhea (PA) and complete gonadal failure, an incomplete phenotype, sometimes from genetic mosaicism, manifests after a variable period of relatively normal menstrual function. (medscape.com)
Chromosome2
  • Usually the total chromosome count was determined in 10-15 cells, but if mosaicism was suspected then 30 or more cell counts were undertaken [10]. (who.int)
  • The remaining cases are due translocation, mosaicism and partial trisomy of the chromosome 21. (bvsalud.org)
Trisomy 211
  • We identified a national cohort of 1,998 persons with DS who were born between 1968 and 2007 (1,852 with standard trisomy 21, 80 with Robertsonian translocations and 66 with mosaicism) using the Danish Cytogenetic Register. (cdc.gov)
Pigmentary mosaicism1
  • Taibjee SM, Hall D, Balderson D, Larkins S, Stubbs T, Moss C. Keratinocyte cytogenetics in 10 patients with pigmentary mosaicism: identification of one case of trissomy 20 mosaicism confined to keranocytes. (rcaap.pt)
Allele1
  • The inherent instability of the M insertion variant makes it susceptible to further Mutation events that can result in "mosaicism" whereby more than one version (allele) of the M insertion variant of a potentially different size is found in various cells throughout a dog's body. (pawprintgenetics.com)
Syndrome5
  • What Is Trisomy 8 Mosaicism Syndrome? (healthline.com)
  • Trisomy 8 mosaicism syndrome (T8mS) is a condition that affects human chromosomes. (healthline.com)
  • The patient should be made aware of the nature of the mosaicism and any specific risk that may exist in each case - such risks may range from non-implantation or miscarriage to a child with a syndrome or malformation. (institutobernabeu.com)
  • Jenna: a 30 year old lady with learning disabilities and Trisomy 8 Mosaicism Syndrome. (sociallifeopportunities.org)
  • Mosaicism (or mosaic Down syndrome) is diagnosed when there is a mixture of two types of cells, some with the usual 46 chromosomes and some with 47 chromosomes. (downsyndrome-singapore.org)
Clonal1
  • Clonal mosaicism likely contributes a transmissible, predicted pathogenic exonic variant for 1 in 15 men, representing a life-long threat of transmission for these individuals and a significant burden on human population health. (radygenomics.org)
Inherited from maternal1
  • A novel mutation of MSX1 inherited from maternal mosaicism causes a severely affected child with nonsyndromic oligodontia. (bvsalud.org)
Abnormal2
  • Embryo mosaicism means that the embryo has a mixture of chromosomally normal and abnormal cells (in one or several chromosomes). (institutobernabeu.com)
  • Bui T-H, Iselius L, Lindsten J. European collaborative study on prenatal diagnosis: Mosaicism, pseudomosaicism and single abnormal cells in amniotic fluid cell cultures. (rcaap.pt)
Novo1
  • These results demonstrate that the rate of germline mutation accumulation varies among families with similar ancestry, and confirm that parental mosaicism is a substantial source of de novo mutations in children. (biorxiv.org)
Embryos1
  • To date, out of all the mosaic embryos that have been transferred worldwide, there have been no reports of a child having been born with problems related to a diagnosed mosaicism in the embryo. (institutobernabeu.com)
Phenotype1
  • The authors present a case of trisomy 20 mosaicism, with no prenatal diagnosis, followed-up for a period of 13 years, aiming to demonstrate the existence of a subtle phenotype, which represents a challenge in diagnosis. (rcaap.pt)
Detection1
  • To quantify the extent of mosaicism in healthy brains and explore its biological implications, we developed a robust analysis pipeline for CNV detection and analyzed single cell whole genome sequencing (scWGS) data from over 1200 human brain cells from 15 individuals. (virginia.edu)
Extent1
  • However, the extent to which mosaicism occurs in normal development, and its significance in brain disorders, has only recently begun to be investigated. (sfari.org)
Detect1
  • The authors conclude that the computational approach described is able to efficiently and robustly detect low-level mosaicism from ES samples, which is critical for accurately determining recurrence risk. (nature.com)
Reveal1
  • Fibroblast karyotyping (sampling the dark and light skin) can reveal mosaicism but is not mandatory for diagnosis. (medscape.com)
Diagnosis3
  • A diagnosis of mosaicism may cause confusion and uncertainty. (medlineplus.gov)
  • Trisomy 20 mosaicism is one of the most common cytogenetic abnormalities found in prenatal diagnosis. (rcaap.pt)
  • Hsu L, Kaffe S, Perlis T. A revisit of trissomy 20 mosaicism in prenatal diagnosis - an overview of 103 cases. (rcaap.pt)
Cells1
  • We report the observation of 46, XY/47, XXY mosaicism in fetal cells from a woman whose first‐trimester chorionic villus sampling (CVS) initially showed only 46, XY. (houstonmethodist.org)
Patient1
  • Hartmann A, Hofmann UB, Hoehn H, Broecker EB, Hamm H. Postnatal Confirmation of Prenatally Diagnosed Trissomy 20 Mosaicism in a Patient with Linear and Whorled Nevoid Hypermelanosis. (rcaap.pt)
Cases1
  • Beke A, Tóth-Pál E, Hargitai B, Szigeti Z, Papp C, Papp Z. Trissomy 20 mosaicism and nonmosaic trissomy 20: a report of 2 cases. (rcaap.pt)
Human1
  • The lines are not unique to humans and can be observed in other non-human animals with mosaicism. (wikipedia.org)
Child2
  • They may not discover that they have mosaicism until they give birth to a child who has the non-mosaic form of the disease. (medlineplus.gov)
  • Sometimes a child born with the non-mosaic form will not survive, but a child born with mosaicism will. (medlineplus.gov)
Cell2
  • Mosaicism is caused by an error in cell division very early in the development of the unborn baby. (medlineplus.gov)
  • Mosaicism can disrupt particular cell signaling pathways to cause disease but is also common in healthy individuals, wherein its role is currently unknown. (virginia.edu)
Skin1
  • Trissomy 20 mosaicism in two unrelated girls with skin hypopigmentation and normal intellectual development. (rcaap.pt)
Level1
  • Discrepancy in the trissomy mosaicism level between cultured amniocytes and uncultured amniocytes in prenatally detected mosaic trissomy 20. (rcaap.pt)
Patients1
  • Negative findings in the other two patients might be because of mosaicism which was undetected either because it was submicroscopic or because it was present in melanocytes, which have not yet been studied. (bmj.com)