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.
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.
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.
Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)
A characteristic symptom complex.
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.
The reproductive cells in multicellular organisms at various stages during GAMETOGENESIS.
A publication issued at stated, more or less regular, intervals.
Individual's rights to obtain and use information collected or generated by others.
A medical-surgical specialty concerned with management and care of women during pregnancy, parturition, and the puerperium.
A medical-surgical specialty concerned with the physiology and disorders primarily of the female genital tract, as well as female endocrinology and reproductive physiology.
A medical-surgical specialty concerned with the morphology, physiology, biochemistry, and pathology of reproduction in man and other animals, and on the biological, medical, and veterinary problems of fertility and lactation. It includes ovulation induction, diagnosis of infertility and recurrent pregnancy loss, and assisted reproductive technologies such as embryo transfer, in vitro fertilization, and intrafallopian transfer of zygotes. (From Infertility and Reproductive Medicine Clinics of North America, Foreword 1990; Journal of Reproduction and Fertility, Notice to Contributors, Jan 1979)
The possession of a third chromosome of any one type in an otherwise diploid cell.
A family of proteins involved in intracellular membrane trafficking. They interact with SYNTAXINS and play important roles in vesicular docking and fusion during EXOCYTOSIS. Their name derives from the fact that they are related to Unc-18 protein, C elegans.
A group of related disorders characterized by LYMPHOCYTOSIS; HISTIOCYTOSIS; and hemophagocytosis. The two major forms are familial and reactive.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
A subtype of von Willebrand disease that results from a partial deficiency of VON WILLEBRAND FACTOR.
A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
A viral encephalitis caused by the St. Louis encephalitis virus (ENCEPHALITIS VIRUS, ST. LOUIS), a FLAVIVIRUS. It is transmitted to humans and other vertebrates primarily by mosquitoes of the genus CULEX. The primary animal vectors are wild birds and the disorder is endemic to the midwestern and southeastern United States. Infections may be limited to an influenza-like illness or present as an ASEPTIC MENINGITIS or ENCEPHALITIS. Clinical manifestations of the encephalitic presentation may include SEIZURES, lethargy, MYOCLONUS, focal neurologic signs, COMA, and DEATH. (From Adams et al., Principles of Neurology, 6th ed, p750)
Any method used for determining the location of and relative distances between genes on a chromosome.
A class of EUKARYOTA (traditionally algae), characterized by biflagellated cells and found in both freshwater and marine environments. Pigmentation varies but only one CHLOROPLAST is present. Unique structures include a nucleomorph and ejectosomes.
A species of fruit fly much used in genetics because of the large size of its chromosomes.
The branch of science concerned with the means and consequences of transmission and generation of the components of biological inheritance. (Stedman, 26th ed)
A genus of small, two-winged flies containing approximately 900 described species. These organisms are the most extensively studied of all genera from the standpoint of genetics and cytology.
Proteins that originate from insect species belonging to the genus DROSOPHILA. The proteins from the most intensely studied species of Drosophila, DROSOPHILA MELANOGASTER, are the subject of much interest in the area of MORPHOGENESIS and development.
A highly caustic substance that is used to neutralize acids and make sodium salts. (From Merck Index, 11th ed)
Substances used on inanimate objects that destroy harmful microorganisms or inhibit their activity. Disinfectants are classed as complete, destroying SPORES as well as vegetative forms of microorganisms, or incomplete, destroying only vegetative forms of the organisms. They are distinguished from ANTISEPTICS, which are local anti-infective agents used on humans and other animals. (From Hawley's Condensed Chemical Dictionary, 11th ed)
Slender-bodies diurnal insects having large, broad wings often strikingly colored and patterned.
The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)
The species Panthera tigris, a large feline inhabiting Asia. Several subspecies exist including the Siberian tiger and Sumatran tiger.
A genus herbs of the Asteraceae family. The SEEDS yield oil and are used as food and animal feed; the roots of Helianthus tuberosus (Jerusalem artichoke) are edible.
The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.

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, 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 ...
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]. ...
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
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.. ...
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. ...
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...
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 ...
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 (
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
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 ...
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 ...
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
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.
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 ...
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 ...
Familial Mixoploidy (Chromosomal Mosaicism): Read more about Symptoms, Diagnosis, Treatment, Complications, Causes and Prognosis.
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.
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.
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].
Causes of Trisomy 21 mosaicism including triggers, hidden medical causes of Trisomy 21 mosaicism, risk factors, and what causes Trisomy 21 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.
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 ...
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. ...
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
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
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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.
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
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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 ...
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 …
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].
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 ...
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 ...
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 ...
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} (W.D.) 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 ...
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=|013749|/a|), and to a Cre recombinase expressing strain.
TY - JOUR. T1 - Clinical signs of mosaicism. AU - Méhes, K.. AU - Kosztolányi, G.. PY - 1995/8. Y1 - 1995/8. UR - UR - 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 - ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 …
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 ...
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 ...
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
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; 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 ...
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
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?
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 ...
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
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 ...
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 ...
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: ...
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 ...
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
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
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.. ...
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…. ...
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 ...
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
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.. ...
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 ...
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 ...
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 ...
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 ...
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
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 ...
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 ...
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.. ...
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 ...
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 ...
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 for the PKS support page of the organization Unique.
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 ...
…but dont forget the complicating factors! Non-penetrance New mutation Adult-onset conditions Consanguinity Interaction Sex-limited/sex influenced Germline mosaicism Anticipation Heterogeniety Pleiotropy
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 ...
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 ...
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 ...
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 ...
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 ...
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
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
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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. ...
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...
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 ...
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)
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 ...
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. ...
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.. ...
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. ...
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 ...
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 ...
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
Jacobs, Kevin B ; Yeager, Meredith ; Zhou, Weiyin ; Wacholder, Sholom ; Wang, Zhaoming ; Rodriguez-Santiago, Benjamin ; Hutchinson, Amy ; Deng, Xiang ; Liu, Chenwei ; Horner, Marie-Josephe ; Cullen, Michael ; Epstein, Caroline G ; Burdett, Laurie ; Dean, Michael C ; Chatterjee, Nilanjan ; Sampson, Joshua ; Chung, Charles C ; Kovaks, Joseph ; Gapstur, Susan M ; ...
"Mosaicism". Genetics. New York: Macmillan Reference USA, 2003. 76-80. "Calico cat". Encyclopædia Britannica. Retrieved 5 ...
"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 ...
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, ...
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 suffers from ring 20 chromosomal mosaicism. Ring Chromosome 20 ...
This is called germline mosaicism. There are at least 33 mutations in the Sox2 gene that have been known to cause anophthalmia ...
... maternal chromosomes may have mosaicism. A number of fetal nucleic acid molecules derived from aneuploid chromosomes can be ...
"Genome mosaicism and organismal lineages" (PDF). Trends in Genetics. 20 (5): 254-60. CiteSeerX doi:10.1016/j. ...
June 2017). "The genomic mosaicism of hybrid speciation". Science Advances. 3 (6): e1602996. Bibcode:2017SciA....3E2996E. doi: ...
Utine GE, Aktas D (2006). "Mosaicism for terminal deletion of 4q". Genet. Couns. 17 (2): 205-9. PMID 16970039. Kalsi G, Kuo PH ...
Jacquot S, Merienne K, Pannetier S, Blumenfeld S, Schinzel A, Hanauer A (1999). "Germline mosaicism in Coffin-Lowry syndrome". ...
MVCV causes vein clearing and yellow mosaicism. This virus has been reported from Tasmania, Brazil, the former Czechoslovakia, ...
Häne BG, Rogers RC, Schwartz CE (1999). "Germline mosaicism in X-linked myotubular myopathy". Clin. Genet. 56 (1): 77-81. doi: ...
... mosaicism affects wide areas of chromosome 8 containing many genes, and can thus be associated with a range of ... 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 ... It can appear with or without mosaicism. Complete trisomy 8 causes severe effects on the developing fetus and can be a cause of ...
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- ...
The stripes are a type of genetic mosaicism. They do not correspond to nervous, muscular, or lymphatic systems. The lines can ... Humans Have Stripes Picture of the Blaschko's lines Illustrations of the various patterns of cutaneous mosaicism Understanding ...
DesGroseilliers M, Fortin F, Lemyre E, Lemieux N (2006). "Complex mosaicism in sex reversed SRY+ male twins". Cytogenetic and ...
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 ...
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. ...
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. multiple cloning site (MCS) mutagen Any physical or chemical agent that ... It is similar to but distinct from mosaicism. chromatid One copy of a newly copied chromosome, which is joined to the original ...
"Parental SCN1A mutation mosaicism in familial Dravet syndrome". Clinical Genetics. 76 (4): 398-403. doi:10.1111/j.1399- ...
A few genomic studies show mosaicism exists among populations of the twist-necked turtle in Surinam. In other words, diploid ... Ploidy Mosaicism and Molecular Differentiation among Populations of the South American Twist-necked Turtle Platemys ... The lizard genus Lacerta and fish genus Phoxinus are the only other known examples of diploid-triploid mosaicism. Additionally ... This phenomenon is known as mosaicism or chimerism. In a follow-up study, Bickham & Hanks (2009) performed cytogenetic analysis ...
It is, presumably, a rare cutaneous form of mosaicism. This disease was first referred to as Atrophoderma of Moulin after Dr. ... postulation of mosaicism for a predisposing gene". Journal of the American Academy of Dermatology. 49 (3): 492-8. doi:10.1067/ ...
Several cells have to be analysed to detect mosaicism. Submicroscopic chromosomal abnormalities that are too small to be ...
"Chimerism Explained" Chimerism and cellular mosaicism, Genetic Home Reference, U.S. National Library of Medicine, National ... Belgovskii, ML (1944). "The Causes of Mosaicism Associated With Heterochromatic Chromosome Regions". OTS 61-11476. United ...
"Somatic APC mosaicism: an underestimated cause of polyposis coli". Gut. 57 (1): 71-6. doi:10.1136/gut.2006.117796. PMID ... have somatic mosaicism. Asymptomatic individuals (and therefore asymptomatic family members) are also known to exist. ...
Olds, Brett P.; P.J. Mulrooney; K.N. Paige (2012-08-07). "Somatic mosaicism in Populus trichocarpa leads to evolutionary change ...
... with the remainder being a variety of other chromosomal anomalies and mosaicisms. Various degrees of mosaicism is present in ...
Trisomy 8 mosaicism (T8M): It is a rare chromosome disorder caused by the presence of an extra chromosome 8 in some cells of ... Dense corneal opacities may occur in trisomy 8 mosaicism. Farber's disease: Nodular corneal opacity may be seen in association ...
It has been confirmed that the disorder is an example of genetic mosaicism. A team of doctors in Australia have trial tested ... Cardoso MT, de Carvalho TB, Casulari LA, Ferrari I (2003). "Proteus syndrome and somatic mosaicism of the chromosome 16". ...
The chromosomal abnormality may be present in just some cells in which case it is known as TS with mosaicism. In these cases, ... Women with Turner's mosaicism can reach normal average height. The fourth metacarpal bone (fourth toe and ring finger) may be ... The presence of mosaicism is estimated to be relatively common in affected individuals (67-90%). In the majority of cases where ... X mosaicism restricted to her germ cells. Turner syndrome may be diagnosed by amniocentesis or chorionic villus sampling during ...
Somatic mosaicism, a type of genetic mosaicism found in somatic cells, and germline mosaicism can be present at the same time ... Germline mosaicism, also called gonadal mosaicism, is a type of genetic mosaicism where more than one set of genetic ... When the mosaicism is only found in the gametes and not in any somatic cells, it is referred to as pure germline mosaicism. ... If the germline mosaicism causing mutation occurs in the somatic cell, it never results in pure germline mosaicism because it ...
Mosaicism". Bulletin of the hereditary diseases program of Alberta. 12 (2). ISSN 0844-1316.. [verification needed] ... fetal mosaicism was confirmed in only one case. This is compared to marker chromosomes detected on CVS, in which mosaicism was ... "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 ...
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 ...
Mosaicism definition, a condition in which an organism or part is composed of two or more genetically distinct tissues owing to ... mosaicism. in Medicine. mosaicism. [mō-zā′ĭ-sĭz′əm]. n.. *A condition in which tissues of genetically different types occur in ... Origin of mosaicism. First recorded in 1925-30; mosaic + -ism. Unabridged Based on the Random House Unabridged ...
... refers to the presence of genetically different cells in a multicellular organism that have been derived from a ... Keywords: mosaicism; chimera; germ‐line mosaicism; somatic cell mosaicism; mutation; clinical abnormalities ... Mosaicism refers to the presence of genetically different cells in a multicellular organism that have been derived from a ... Lázaro C, Ravella A, Gaona A, Volpini V and Estivill X (1994) Neurofibromatosis type 1 due to germ‐line mosaicism in a ...
mosaicism synonyms, mosaicism pronunciation, mosaicism translation, English dictionary definition of mosaicism. n. A condition ... mosaicism. Also found in: Thesaurus, Medical, Encyclopedia, Wikipedia.. Related to mosaicism: chimerism ... Mosaicism - definition of mosaicism by The Free Dictionary ... mosaicism. (məʊˈzeɪɪˌsɪzəm) n. (Genetics) the occurrence of different types of cells side by side in the same organism ...
... Hironori Takahashi,1 Satoshi Hayashi,1 Yumiko Miura,1 Keiko Tsukamoto,1 Rika Kosaki,2 ... F. Greenberg, N. T. Elsas, J. A. Reidy, A. T. L. Chen, and L. B. Stone, "Autosomal mosaicism in amniotic fluid cells from a ... L. Y. F. Hsu, M.-T. Yu, R. L. Neu et al., "Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than ... D. M. Sherer, N. Wang, H. O. Thompson et al., "An infant with trisomy 9 mosaicism presenting as a complete trisomy 9 by ...
Here we report a paternal somatic mosaicism of an STXBP1 mutation. The affected daughter had onset of spasms at 1 month of ag … ... Paternal mosaicism of an STXBP1 mutation in OS Clin Genet. 2011 Nov;80(5):484-8. doi: 10.1111/j.1399-0004.2010.01575.x. Epub ... Here we report a paternal somatic mosaicism of an STXBP1 mutation. The affected daughter had onset of spasms at 1 month of age ... This is a first report of somatic mosaicism of an STXBP1 mutation, which has implications in genetic counseling of OS. ...
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What is mosaicism?. The term mosaicism is used to describe the presence of more than one type of cell in a person. For example ... Mosaicism is usually described as a percentage. For example, when a baby is born with Down syndrome, the physician will take a ... An example of mosaicism is mosaic Down syndrome.. About 95 percent of people with Down syndrome have trisomy 21, where there is ... Since the percentage of cells with an extra chromosome is 15 out of 20, the baby would be said to have a level of mosaicism at ...
Algal genomes reveal evolutionary mosaicism and the fate of nucleomorphs.. Curtis BA1, Tanifuji G, Burki F, Gruber A, Irimia M ... Phylogenomic analyses and subcellular targeting predictions reveal extensive genetic and biochemical mosaicism, with both host ...
Mosaicism of the p.(V1762L) Variant Is Present in Multiple Tissues and Is Expressed in Cardiomyocytes.. To verify the mosaicism ... We considered two possible patterns of mosaicism (Fig. S2): diffuse and clustered. Mosaicism in ventricular cardiomyocytes ... Early somatic mosaicism causes LQTS. James Rush Priest, Charles Gawad, Kristopher M. Kahlig, Joseph K. Yu, Thomas OHara, ... Early somatic mosaicism causes LQTS. James Rush Priest, Charles Gawad, Kristopher M. Kahlig, Joseph K. Yu, Thomas OHara, ...
Detectable clonal mosaicism and its relationship to aging and cancer.. Jacobs KB1, Yeager M, Zhou W, Wacholder S, Wang Z, ... Detectable mosaicism was also more common in individuals for whom DNA was collected at least 1 year before diagnosis with ...
Mosaicism is a condition in which cells within the same person have a different genetic makeup. This condition can affect any ... Also known as: Chromosomal mosaicism and Gonadal mosaicism. Definition. Mosaicism is a condition in which cells within the same ... Mosaicism is caused by an error in cell division very early in the development of the unborn baby. Examples of mosaicism ... They may not discover that they have mosaicism until they give birth to a child who has the non-mosaic form of the disease. ...
UMD scientists say functional mosaicism carries a cautionary message for drug development and may explain some instances of ... "Functional mosaicism is different, and it can fool you. Your drug may appear to work because it works in some cells-even most ... Home Model Systems Animal Models Newly Discovered Functional Mosaicism May Explain Disease Relapse and Antibiotic Resistance ... Newly Discovered Functional Mosaicism May Explain Disease Relapse and Antibiotic Resistance. September 11, 2019. 0 ...
Cathy Laurie and colleagues detect mosaicism for large chromosomal abnormalities in peripheral blood in a subset of healthy ... Cathy Laurie and colleagues detect mosaicism for large chromosomal abnormalities in peripheral blood in a subset of healthy ... Detectable clonal mosaicism from birth to old age and its relationship to cancer. *Cathy C Laurie1. n38, n39*, Cecelia A Laurie ... Detection of low-level mosaicism by array CGH in routine diagnostic specimens. . Am. J. Med. Genet. A. 140, 2757-2767 (2006). ...
Cutting-edge and authoritative, Genomic Mosaicism in Neurons and Other Cell Types is a valuable resource for learning about the ... Genetic and Genomic Mosaicism in Aging and Disease. * Front Matter Pages 269-269 ... Principles and Approaches for Discovery and Validation of Somatic Mosaicism in the Human Brain ... Single-Cell Whole Genome Amplification and Sequencing to Study Neuronal Mosaicism and Diversity ...
... mosaicism explanation free. What is mosaicism? Meaning of mosaicism medical term. What does mosaicism mean? ... Looking for online definition of mosaicism in the Medical Dictionary? ... Related to mosaicism: chimerism. mosaicism. [mo-za´ĭ-sizm] the presence in an individual of cells derived from the same zygote ... Mosaicism , definition of mosaicism by Medical dictionary ...
Eamonn Maher on Mosaicism, part of a collection of online lectures. ... Maher, E. (2020, July 30). Mosaicism [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved ...
Phylogeographic diversity and mosaicism of the Helicobacter pylori tfs integrative and conjugative elements. ...
Our results suggest that a large proportion of epidermal nevi are caused by a mosaicism of activating FGFR3 mutations in the ...
Gonadal Mosaicism Induced by Chemical Treatment of Sperm in Drosophila melanogaster. Dan L. Lindsley, Robert W. Hardy, Pedro ... Gonadal Mosaicism Induced by Chemical Treatment of Sperm in Drosophila melanogaster. Dan L. Lindsley, Robert W. Hardy, Pedro ... Gonadal Mosaicism Induced by Chemical Treatment of Sperm in Drosophila melanogaster. Dan L. Lindsley, Robert W. Hardy, Pedro ... Gonadal Mosaicism Induced by Chemical Treatment of Sperm in Drosophila melanogaster Message Subject (Your Name) has forwarded a ...
... Nat Genet. 2012 May 6;44(6):651-8. doi: 10.1038/ng.2270. ... Detectable mosaicism was also more common in individuals for whom DNA was collected at least 1 year before diagnosis with ...
Recurrence (Germline Mosaicism). Can you explain how a family can have more than one child with CdLS, if neither parent has any ... We explain this by a phenomenon called germ line mosaicism which refers to the presence in the germ cells (the eggs in a ...
The highly successful human pathogen Mycobacterium tuberculosis has an extremely low level of genetic variation, which suggests that the entire population resulted from clonal expansion following an evolutionary bottleneck around 35,000 y ago. Here, we show that this population constitutes just the visible tip of a much broader progenitor species, whose extant representatives are human isolates of tubercle bacilli from East Africa. In these isolates, we detected incongruence among gene phylogenies as well as mosaic gene sequences, whose individual elements are retrieved in classical M. tuberculosis. Therefore, despite its apparent homogeneity, the M. tuberculosis genome appears to be a composite assembly resulting from horizontal gene transfer events predating clonal expansion. The amount of synonymous nucleotide variation in housekeeping genes suggests that tubercle bacilli were contemporaneous with early hominids in East Africa, and have thus been coevolving with their human host much longer than
Brain Somatic Mosaicism Network‡. *↵†Corresponding author. Email: mikemc{at} (M.J.M.); moranj{at} (J.V.M.) ... Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network ... Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network ... Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network ...
Buy Mosaicism in Human Skin: Understanding Nevi, Nevoid Skin Disorders, and Cutaneous Neoplasia (2014 ed.) by Rudolf Happle ... The Mechanisms of Mosaicism .- Genomic Mosaicism of Autosomes.- Epigenetic Mosaicism of autosomes.- Genomic Mosaicism of X ... PATTERNS AND MECHANISMS: Mosaicism as a Biological Concept:.- History.- Mosaicism in Plants, Animals, Humans.- Mosaicism Versus ... Mosaicism in Human Skin: Understanding Nevi, Nevoid Skin Disorders, and Cutaneous Neoplasia (2014 ed.). By: Rudolf Happle ( ...
Sex Chromosome Mosaicism and Hybrid Speciation among Tiger Swallowtail Butterflies. Figure 5. Estimated divergence times ...
  • 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. (
  • If the germline mosaicism causing mutation occurs in the somatic cell, it never results in pure germline mosaicism because it will be present in somatic cells as well. (
  • Diseases caused by germline mosaicism can be difficult to diagnose as genetically-inherited because the mutant alleles are not likely be present in the somatic cells. (
  • If the disease is a result of pure germline mosaicism, then the disease causing mutant allele would never be present in the somatic cells. (
  • Germline mosaicism may contribute to the inheritance of many genetic conditions. (
  • Conditions that are inherited by means of germline mosaicism are often mistaken as being the result of de novo mutations. (
  • The recurrence rate of conditions caused by germline mosaicism varies greatly between subjects. (
  • Pure germline mosaicism refers to mosaicism found exclusively in the gametes and not in any somatic cells. (
  • With such mutation within the gamete cells, a pair of medically typical individuals may have repeated succession of children who suffer from certain genetic disorders such as Duchenne muscular dystrophy and osteogenesis imperfecta because of germline mosaicism. (
  • however, if these parents produce more than one child with an AD disorder, germline mosaicism is more likely the cause than a sporadic mutation. (
  • Germline mosaicism disorders are usually inherited in a pattern that suggests that the condition is dominant in either or both of the parents. (
  • That said, diverging from Mendelian gene inheritance patterns, a parent with a recessive allele can produce offspring expressing the phenotype as dominant through germline mosaicism. (
  • The frequency of germline mosaicism is not known due to the sporadic nature of the mutations causing it and the difficulty in obtaining the gametes that must be tested to diagnose it. (
  • Autosomal dominant or X-linked familial disorders often prompt prenatal testing for germline mosaicism. (
  • In the paper Germline and somatic mosaicism in transgenic mice published in 1986, Thomas M.Wilkie, Ralph L.Brinster, and Richard D.Palmiter analyzed a germline mosaicism experiment done on 262 transgenic mice and concluded that 30% of founder transgenic mice are mosaic in the germline. (
  • However, to date, germline mosaicism has not been reported. (
  • This report describes a family with recurrence of PHOX2B mutation-confirmed CCHS due to germline mosaicism. (
  • Typically, a person with only germline mosaicism will not be affected with the disorder caused by the mutation because the mutation is not in the other cells of the body. (
  • 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). (
  • Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis. (
  • Germline mosaicism is a mutation that is limited to the gonads and can be transmitted to offspring. (
  • When there is a germline mosaicism in pt B's gonadal cells (sperm/egg), the phenotype is normal (no white patch visible) bc obviously your sperm does not contribute to what your arm looks like. (
  • Lyonization (Functional X-Chromosome Mosaicism) in X-Linked Skin Disorders. (
  • Mouse model of chromosome mosaicism reveals lineage-specific depletion of aneuploid cells and normal developmental potential. (
  • To determine the fate of aneuploid cells and the developmental potential of mosaic embryos, here we generate a mouse model of chromosome mosaicism. (
  • We developed a rapid karyotyping method that uses massively parallel sequencing to measure the degree of chromosome mosaicism. (
  • They discovered that, in terms of chromosome mosaicism in embryos originating from IVF, whilst maternal age does not appear to affect mosaicism, paternal age is a risk factor that increases with the male partner's age. (
  • Dr José Antonio Ortiz, an expert in molecular biology and genetics at Instituto Bernabeu who is leading the research, points out that the research work is incredibly relevant since it has enabled us to understand the factors linked to chromosome mosaicism in embryos generated during cycles of IVF and their ability to lead to a full term pregnancy. (
  • Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based and data derived for chromosome mosaicism and pseudomosaicism studies. (
  • Incidence and significance of chromosome mosaicism involving an structural abnormality diagnosed prenatally through amniocentesis: A collaborative study. (
  • The effects of gonadotropins on chromosome aneuploidy, chromosome mosaicism and sex ratio on mouse preimplantation embryos were evaluated through the use of fluorescence in situ hybridization (FISH). (
  • The study was designed tn investigate effect of gonadotropins on chromosome aneuploidy, chromosome mosaicism and sex ratio through the use of FISH technique using chromosome X, Y and 19 probes. (
  • Hypomelanosis of Ito turns out to be a causable non-specific phenotype, i.e., a clinical marker for chromosome mosaicism of all different types in individuals with a dark enough skin to show lighter patches. (
  • They may not discover that they have mosaicism until they give birth to a child who has the non-mosaic form of the disease. (
  • Sometimes a child born with the non-mosaic form will not survive, but a child born with mosaicism will. (
  • Pallister-Killian mosaic syndrome (PKS), also termed Pallister-Killian syndrome, Pallister mosaic aneuploidy, tetrasomy 12p mosaicism , isochromosome 12p syndrome, or Teschler-Nicola syndrome is a rare dysmorphic disorder caused by mosaic tetrasomy of the short arm of chromosome 12 (12p). (
  • An example of mosaicism is mosaic Down syndrome. (
  • To date, PCDH19 mutations have been reported in hundreds of females and only in 10 mosaic male epileptic patients with mosaicism. (
  • Two asymptomatic mosaic fathers were confirmed as gonosomal mosaicism, with MAFs ranging from 4.16% to 37.38% and from 1.27% to 19.13%, respectively. (
  • The identification of Von Hippel-Lindau (VHL) mosaic mutations by conventional Sanger sequencing requires a labour-intensive enrichment step, thus explaining that mosaicism occurrence is underestimated in patients. (
  • mosaic) mutation detection and a good method for verification of mosaicism identified with conventional Sanger sequencing. (
  • A mosaic or mosaicism occurs when two or more distinct populations of cells with differing genotypes develop from a single fertilised egg. (
  • Tissue specific mosaicism of trisomy 9 in a patient with severe torsion scoliosis: We report on a female patient who had mosaic trisomy 9, presenting with severe scoliosis and mental retardation. (
  • Our results showed a decrease in the incidence of chromosomal mosaicism over time, with an estimate 80% of day 4 versus 42% of day 8 embryos classified as chromosomally mosaic. (
  • We suggest that the developmental arrest of a significant proportion of mosaic embryos on day 4 together with the cell death or reduced proliferation of aneuploid cells within an embryo may be responsible for the observed decrease in mosaicism over time. (
  • There are numerous sources for information on Turner syndrome and mosaic Turner syndrome including differences between 45,X/ 46, XX and 45,X/46,XY mosaicism and we will not attempt to address them here. (
  • In genetics, a mosaic, or mosaicism, involves the presence of two or more populations of cells with different genotypes in one individual who has developed from a fertilised egg. (
  • Mosaicism is a condition in which cells within the same person have a different genetic makeup. (
  • Genetic testing can diagnose mosaicism. (
  • conversely, somatic mosaicism is a type of genetic mosaicism found in somatic cells. (
  • 1998) Frequency of somatic and germ‐line mosaicism in retinoblastoma: implications for genetic counseling. (
  • Bernards A and Gusella JF (1994) The importance of genetic mosaicism in human disease. (
  • Flannery DB (1990) Pigmentary dysplasias, hypomelanosis of Ito, and genetic mosaicism. (
  • Jonkman MF (1999) Revertant mosaicism in human genetic disorders. (
  • This is a first report of somatic mosaicism of an STXBP1 mutation, which has implications in genetic counseling of OS. (
  • Phylogenomic analyses and subcellular targeting predictions reveal extensive genetic and biochemical mosaicism, with both host- and endosymbiont-derived genes servicing the mitochondrion, the host cell cytosol, the plastid and the remnant endosymbiont cytosol of both algae. (
  • The chapters in this book are divided into 5 parts, and cover the following topics: principles and approaches for discovery of somatic mosaicism in the brain, aneuploidy and ploidy variation, DNA copy number variation, LINE-1 retrotransposition, and genetic and genomic mosaicism in aging and disease. (
  • Cutting-edge and authoritative, Genomic Mosaicism in Neurons and Other Cell Types is a valuable resource for learning about the latest techniques for the analysis of genome and genetic mosaicism in vertebrate neurons. (
  • A mutation in development carries forward to all descendant cells, causing genetic mosaicism. (
  • Widespread genetic mosaicism may influence diseases that derive from a few genetically altered cells, such as cancer. (
  • In addition, much of the variation in the risk of cancer between individuals may arise from variation in the degree of genetic mosaicism set in early life. (
  • If so, then the risk of ALS would be influenced by developmental mutations and the consequent variation in genetic mosaicism. (
  • New technologies promise the ability to measure genetic mosaicism by sampling a large number of cellular genomes within an individual. (
  • Those developmental mutations likely have significant consequences for genetic mosaicism in the body and for the risk of cancer that arises from those mutations ( 1 , 2 ). (
  • Familial Turner syndrome with an X;Y translocation mosaicism: implications for genetic counseling. (
  • Conclusion Our study provides new insights into phenotype-genotype correlations in PCDH19 related epilepsy and the finding of high-frequency mosaicism has important implications for genetic counselling. (
  • Here, we tested embryonic biopsy methods for gene mutation analysis, and found that genetic mosaicism can be a major problem to genome editing sheep embryos. (
  • Somatic mosaicism has been implicated as a causative mechanism in a number of genetic and genomic disorders. (
  • Genotype-phenotype discordance caused by genetic mosaicism in CAH patients has not been reported, nor the concomitant CAH and NDI. (
  • Genetic mosaicism is a novel mechanism contributing to the genotype-phenotype discordance in 21OHD and small percentage of wild-type CYP21A2 alleles may be sufficient to prevent phenotype development. (
  • The Clinical Manifestation and Genetic Evaluation in Patients with 45,X/46,XY Mosaicism. (
  • Intercellular differences in chromosome number can be considered an overlooked type of structural and functional genome variations, which produce genetic mosaicism. (
  • Questions regarding trisomy 2 mosaicism should be discussed with a genetic professional. (
  • Satir, B 1976, ' Genetic control of membrane mosaicism ', Journal of Supramolecular and Cellular Biochemistry , vol. 5, no. 3, pp. 381-389. (
  • The karyotype with 2n=41 showed some putative monosomic and trisomic chromosomes, while the karyotype with 2n=42 showed 21 chromosomal pairs, similar to cytotype A. RAPD analysis showed that these two specimens have the same band pro file of cytotype A (Nei's genetic identity=92%), discarding a possible hybridization between both cytotypes and supporting the mosaicism hypothesis. (
  • In this review, the various genetic mechanisms leading to mosaicism and the resulting cutaneous patterns are considered. (
  • some report sensitivity down to 1% mosaicism (15), others have reported difficulty in amplifying large alleles (17-18) or amplifying premutation alleles in a background of full mutations (19). (
  • Our results suggest that a large proportion of epidermal nevi are caused by a mosaicism of activating FGFR3 mutations in the human epidermis, secondary to a postzygotic mutation in early embryonic development. (
  • Germinal mosaicism increases the recurrence risk for "new" Duchenne muscular dystrophy mutations. (
  • Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability. (
  • When tuned to detect mosaicism, simple analytical schema based on the binomial distribution are adaptable to sequencing reads from gene-panel, exome, or whole-genome tests to detect mutations present in all tissues arising from early somatic mutation events. (
  • Mosaicism diminishes the value of pre-implantation embryo biopsies for detecting CRISPR/Cas9 induced mutations in sheep. (
  • Home › About CIRM › Our Publications › Grantee publications › Mosaicism diminishes the value of pre-implantation embryo biopsies for detecting CRISPR/Cas9 induced mutations in sheep. (
  • Most mutations occur de novo, but recent evidence suggests that up to 25% are inherited from asymptomatic parents with somatic mosaicism for these mutations. (
  • It is generally accepted that such constitutional mosaicisms are derived from postzygotic somatic mutations. (
  • Evidence of clonal mosaicism from mtDNA mutations over 3 years in vivo. (
  • A name object indicating whether the document has been modified to include trapping information Background: Post-zygotic de novo mutations lead to the phenomenon of gene mosaicism. (
  • From previous studies, it is known that aneuploidy and mosaicism in 3PN embryos can still constitute "normal" developmental events, with an etiology as mentioned above, and not necessarily a consequence of the 3PN status. (
  • The chromosomal mosaicism has been considered as a feasible explanation for some failures after the transfer of euploid embryos. (
  • The big reason that reported mosaicism rates are all over the place is that it's impossible to confirm or deny mosaicism in the regular course of practice using patients' embryos. (
  • Array CGH, an older technology, detected mosaicism in 4% of embryos. (
  • In their research work, the experts from Instituto Bernabeu demonstrate that embryos with embryo mosaicism can implant and lead to the birth of healthy children even though they have a slightly lower ability to give rise to full term pregnancies. (
  • The final big safety issue with using CRISPR on embryos is something called mosaicism. (
  • Subsequently, we investigated the significance of chromosomal aneuploidy and mosaicism for the developmental potential of human preimplantation embryos. (
  • The molecular mechanisms that give rise to aneuploidy and chromosomal mosaicism in human preimplantation embryos remain poorly understood. (
  • Up until about 5 years ago before the new testing methods were broadly adopted, we didn't know much about mosaicism in early human embryos. (
  • Somatic mosaicism occurs when there is a spontaneous reversion mutation that can lead to a mixed chimerism of corrected and uncorrected bone marrow cells leading to stabilisation or correction of an FA patient's blood counts in the absence of any administered therapy. (
  • Here we report a paternal somatic mosaicism of an STXBP1 mutation. (
  • Mosaicism due to mutation is less common. (
  • This variable expression seemingly masquerades as anticipation is due to parental mosaicism for a dominant mutation, with subsequent full inheritance and penetrance of the mutation in the heterozygous offspring. (
  • If mosaicism could be overcome, pre-implantation embryo biopsies for mutation screening represents a powerful approach that will streamline the creation of KO animals. (
  • 1. Gonadal mosaicism, a state in which cells in a sector of a gonad are of a form not present in either parent, because of mutation in an intermediate progenitor of that sector. (
  • But the potential off-target mutation was found only in the cells taken from the embryo and not in later samples, which does imply mosaicism. (
  • Somatic mosaicism of a point mutation in the dystrophin gene in a patient presenting with an asymmetrical muscle weakness and contractures. (
  • The clinical effect of somatic mosaicism depends critically upon the developmental stage at which the mutation occurs. (
  • uuid:646c4213-d8a1-4e95-b84a-3aa15e3133fd Somatic/gonadal mosaicism for structural autosomal rearrangements: female predominance among carriers of gonadal mosaicism for unbalanced rearrangements URI The common identifier for all versions and renditions of a document. (
  • Molecular Cytogenetics, 2015, doi:10.1186/s13039-015-0211-y, Somatic/gonadal mosaicism for structural autosomal rearrangements: female predominance among carriers of gonadal mosaicism for unbalanced rearrangements. (
  • internal Therefore, we demonstrate that somatic/gonadal mosaicism is a mechanism that gives rise to SHFM. (
  • Germinal mosaicism in a sample of families with Duchenne/Becker muscular dystrophy with partial deletions in the DMD gene. (
  • Here, we report a rare case of germinal mosaicism of a deletion encompassing approximately 300 Kb of DNA, which by removing the entire FMR1 gene led to FXS. (
  • Estimate of germinal mosaicism in Duchenne muscular dystrophy. (
  • Mosaicism Versus Chimerism. (
  • On rare occasions, a coat colouring can grab the attention of the gerbil community and usually these coats with their unusual markings involve mosaicism or chimerism. (
  • psycholinguistic and renitent Finley cross-fertilizing his parenthesizes or mosaicism and chimerism pdf permeates critically. (
  • The epigenetic landscape of aneuploidy: constitutional mosaicism leading the way? (
  • Aneuploidy originates from either meiotic or mitotic chromosome instability and, in some instances, manifests as somatic chromosomal mosaicism. (
  • Munne also showed that, interestingly, mosaicism did not increase as maternal age increased, making it different from the rate of aneuploidy which increases drastically with maternal age. (
  • Here we provide molecular evidence for the presence of mosaicism in ATS. (
  • Next, we determined the presence of mosaicism in ~ 50% of the recovered fetuses employing a clonal sequencing methodology. (
  • While the use of biopsies did not compromise embryo viability, the presence of mosaicism diminished the diagnostic value of the technique. (
  • The research is based on data obtained from observing if there is a relationship between the morphological characteristics of an embryo, in accordance with Asebir criteria, and the presence of mosaicism in blastocyst biopsies. (
  • Detectable clonal mosaicism and its relationship to aging and cancer. (
  • We detected clonal mosaicism for large chromosomal anomalies (duplications, deletions and uniparental disomy) using SNP microarray data from over 50,000 subjects recruited for genome-wide association studies. (
  • Although only 3% of subjects with detectable clonal mosaicism had any record of hematological cancer before DNA sampling, those without a previous diagnosis have an estimated tenfold higher risk of a subsequent hematological cancer (95% confidence interval = 6-18). (
  • 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 interval = 6-18). (
  • Constitutional trisomy 8 mosaicism is compatible with a normal phenotype ( 7450754 ) and is associated with an increased risk of haematological proliferations ( 9880228 , 8913726 , 11746991 ). (
  • Therefore, most cases of spontaneous Rh phenotype splitting appear to be due to hematopoietic mosaicism based on LOH on chromosome 1. (
  • Results from these experiments revealed that imprinting disorders can display striking single-cell heterogeneity in molecular phenotype and that this heterogeneity may underlie the epigenetic mosaicism characteristic of human imprinting gene disorders. (
  • This case illustrates the variable levels of mosaicism manifest in the peripheral blood of an infant with obvious Down syndrome phenotype, and the limitation of cytogenetic analysis of peripheral lymphocytes alone in prenatal and postnatal detection of low levels of mosaicism. (
  • Individuals with detectable mosaicism (i.e. observed in amniotic fluid or blood will on average have a milder phenotype than those with 100% 45,X in amniotic fluid or blood. (
  • S. alburnoides is an allopolyploid hybridogenetic complex, which makes it a likely candidate for ploidy mosaicism occurrence, and is also an interesting model to address questions about gene expression regulation and genomic interactions. (
  • In this work we intended to correlate expression differences between individuals and/or between organs to the occurrence of mosaicism, evaluating if mosaics could explain previous observations and its impact on the assessment of gene expression patterns. (
  • Mosaicism refers to the occurrence of two or more genomes in an individual derived from a single zygote. (
  • Finally, since the identification of these genomic variations faces numerous difficulties, we found pertinent to describe available approaches towards the detection of chromosomal mosaicism in human somatic tissues. (
  • On the other hand the outcome associated with low level trisomy 8 mosaicism detected in amniotic fluid or blood is also not predictable and may be normal. (
  • There are three types of confined placental mosaicism depending on the cells involved at the time of the error: Type 1 CPM- The error occurs in a trophoblast cell, and thus only trophoblast cells are affected. (
  • Methods: To determine whether mosaicism occurs in Canada lynx, two lynx individuals were sampled for a variety of tissue types (lynx 1) and tissue locations (lynx 1 and 2), and 1,672 individuals of known sex were genotyped to further rule out mosaicism. (
  • Conclusions Ploidy mosaicism occurs sporadically within the S. alburnoides complex, but in a frequency significantly higher than reported for other organisms. (
  • Around 30% of Turner's syndrome cases demonstrate mosaicism, while complete monosomy (45, X) occurs in about 50-60% of cases. (
  • name B ResourceRef Somatic or Constitutional mosaicism occurs at an embryonic or pre-embryonic stage and becomes an integral part of an organism. (
  • 1990) reported on 7 cases of monosomy X mosaicism detected by CVS. (
  • An infant with trisomy 9 mosaicism presenting as a complete trisomy 9 by amniocentesis," Prenatal Diagnosis , vol. 12, no. 1, pp. 31-37, 1992. (
  • Prenatal diagnosis of mosaicism for partial trisomy 8: a case report including fetal pathology . (
  • Prenatal diagnosis of low-level mosaicism for trisomy 2 associated with a favorable pregnancy outcome. (
  • Lázaro C, Ravella A, Gaona A, Volpini V and Estivill X (1994) Neurofibromatosis type 1 due to germ‐line mosaicism in a clinically normal father. (
  • Zlotogora J (1998) Germ line mosaicism. (
  • We explain this by a phenomenon called 'germ line mosaicism' which refers to the presence in the germ cells (the eggs in a woman or the sperm in a man) of a number of eggs or sperm with a change in the CdLS gene. (
  • 1997) Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance. (
  • Functional mosaicism introduces a cautionary message," said Antony Jose, PhD, associate professor of cell biology and molecular genetics at UMD. (
  • Researchers at the Center for Childhood Cancer Research Center are studying the underlying cellular and molecular mechanisms that contribute to the epigenetic mosaicism characteristic of patients with RSS and BWS. (
  • In fact studies using molecular means to detect low level mosaicism suggest that most Turner's individuals have some diploid cells. (
  • A diagnosis of mosaicism may cause confusion and uncertainty. (
  • Mosaicism in Human Skin: Understanding Nevi, Nevoid Skin Disorders, and Cutaneous Neoplasia (2014 ed. (
  • All cutaneous neoplasms, both benign and malignant, reflect mosaicism, which is the necessary basis to explain numerous human skin disorders. (
  • Moreover, the effect of somatic chromosomal mosaicism on both interindividual and intercellular diversity as well as human diseases is discussed. (
  • Table 4 Somatic mosaicism for non centromeric rearrangement in asymptomatic carriers with poor reproductive history. (
  • Genomic Mosaicism of Autosomes. (
  • Parental mosaicism was confirmed in the four families through quantitative analysis of the ratio of mutant versus wild-type allele (COL6A1, COL6A2, and COL6A3) in genomic DNA from various tissues, including blood, dermal fibroblasts, and saliva. (
  • We studied XLAG syndrome patients (n = 18)to determine if somatic mosaicism contributed to the genomic pathophysiology. (
  • The presence of somatic mosaicism in lynx tissues could have implications for the future study of exonic trinucleotide repeats in landscape genomic studies, in which the accurate reporting of genotypes would be highly problematic. (
  • I. Y. Iourov, S. G. Vorsanova and Y. B. Yurov, " Intercellular Genomic (Chromosomal) Variations Resulting in Somatic Mosaicism: Mechanisms and Consequences", Current Genomics (2006) 7: 435. (
  • Many cases of trisomy 2 mosaicism result in spontaneous abortion or miscarriage during pregnancy. (
  • Hsu et al (1997) reported on 14 cases of trisomy 8 mosaicism detected on amniocentesis. (
  • However, two of the 11 children had multiple malformations, including one case with trisomy 8 mosaicism on CVS culture , but a normal karyotype on CVS direct preparation and amniocentesis. (
  • True trisomy 2 mosaicism in amniocytes and newborn liver associated with multiple system abnormalities," American Journal of Medical Genetics , vol. 72, no. 3, pp. 343-346, 1997. (
  • Trisomy 2 mosaicism is a rare chromosome condition caused by the presence of an extra copy of chromosome 2 in a subset of a personÕs cells. (
  • Trisomy 2 mosaicism may be encountered during pregnancy as a finding following chorionic villus sampling. (
  • Following organizations serve the condition "Trisomy 2 mosaicism" for support, advocacy or research. (
  • Finding the right clinical trial for Trisomy 2 mosaicism can be challenging. (
  • The terms "Trisomy 2 mosaicism" returned 4 free, full-text research articles on human participants. (
  • Hypomelanosis of Ito with a trisomy 2 mosaicism: a case report. (
  • Application of interphase FISH to uncultured amniocytes for rapid confirmation of true trisomy 2 mosaicism in the case of suspected amniocyte mosaicism involving trisomy 2 in a single colony. (
  • The clinical manifestations of mosaicism may be reflected in patchy or streaky pigment, overgrowth or undergrowth, and asymmetric growth or anomalies. (
  • Hall JG (1988) Review and hypotheses: somatic mosaicism: observations related to clinical genetics. (
  • Patients with 45,X/46,XY mosaicism can share clinical features with Turner syndrome, including short stature and cardiac anomalies. (
  • Gonadal pathology and tumor risk in relation to clinical characteristics in patients with 45,X/46,XY mosaicism. (
  • Somatic mosaicism was shown to occur in sporadic males but not in females with XLAG syndrome, although the clinical characteristics of the disease were similarly severe in both sexes. (
  • The relatively high frequency of maternal mosaicism warrants mandatory WBC testing in both shotgun sequencing- and single-nucleotide polymorphism-based clinical NIPT after the finding of a potential fetal SCA. (
  • Postnatal investigations revealed biparental inheritance of chromosome 8 and the infant exhibited no clinical features of trisomy 8 mosaicism. (
  • This review refers to somatic chromosomal mosaicism and aims to describe its mechanisms and consequences. (
  • Mosaicism refers to the presence of genetically different cells in a multicellular organism that have been derived from a single fertilized egg. (
  • Algal genomes reveal evolutionary mosaicism and the fate of nucleomorphs. (
  • Although Listeria phage genomes feature a conserved organization, they also show extensive mosaicism within the genome building blocks. (
  • Discrepancies in cytogenetic results between amniocytes and postnatally obtained blood: trisomy 9 mosaicism," Congenital Anomalies , vol. 46, no. 2, pp. 115-117, 2006. (
  • X/XY mosaicism was observed on both cultured and uncultured amniocytes. (
  • Limited studies suggest that the reduced accuracy associated with detecting SCAs is due to confined placental, placental, or true fetal mosaicism. (
  • This method showed the ability to detect mosaicism down to a 1% level. (
  • Instituto Bernabeu will present a study entitled 'Embryo mosaicism and its impact on the results of cycles of in vitro fertilisation (IVF) and associated factors' at the 19th edition of the Congress of the Association for the Study of Reproduction Biology (ASEBIR) due to be held in Madrid between 15th and 17th November. (
  • Recurrent third-trimester fetal loss and maternal mosaicism for long-QT syndrome. (
  • This is the first report demonstrating mosaicism as a cause of intrafamilial/intergenerational variability of COL6-RD, and suggests that sporadic and parental mosaicism may be more common than previously suspected. (
  • This type of mosaicism is described in normal pregnancies and is sometimes associated with delayed growth of the fetus. (
  • Most pregnancies that are diagnosed with confined placental mosaicism continue to term with no complications and the children develop normally. (
  • The pregnancy loss rate in pregnancies with confined placental mosaicism, diagnosed by chorionic villus sampling, is higher than among pregnancies without placental mosaicism. (
  • This family illustrates the complexity and difficulties, in term of patient counseling and management in Turner syndrome, in determining ovarian status, fertility planning, risks associated with pregnancies, particularly when mosaicism for Y material chromosome is identified. (
  • However, given the viability of true fetal trisomy 8 mosaicism, there should be further diagnostic testing offered in continuing pregnancies (Wolstenholme, 1996). (
  • In pregnancies with CVS mosaicism involving trisomy 8, high resolution serial ultrasound examination is indicated, regardless of the amniocentesis result. (
  • Confined placental mosaicism (CPM) represents a discrepancy between the chromosomal makeup of the cells in the placenta and the cells in the fetus. (
  • Level of mosaicism: There is a correlation between a high number of aneuploid cells detected at CVS with poor pregnancy progress. (
  • A wide phenotypic variability in mixed gonadal dysgenesis has been previously described, with unilateral testicular structures, due in part to isodicentric Y(p) (idicY(p)) mosaicism or the presence of SRY in early gonadal ontogenesis of Sertoli cells (22). (
  • Since the percentage of cells with an extra chromosome is 15 out of 20, the baby would be said to have a level of mosaicism at 75 percent. (
  • It may be that some cells in a tissue, for example, a tumor, may use functional mosaicism to resist drug therapy by utilizing alternative molecules for the same process. (
  • Functional mosaicism, on the other hand, means that some individual cells within a population of seemingly identical cells can also use an alternate pathway for certain functions. (
  • While disease severity varies over a wide spectrum for these syndromes, tissue from patients with BWS and RSS frequently exhibit "phenotypic mosaicism" a phenomenon in which cells from different organs exhibit dysregulated imprinted gene regulation to varying degrees. (
  • Trisomy 12 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 12 in some of the body's cells. (
  • however, most of the mosaicism comprised diploid and polyploid cells. (
  • Our results suggest that mosaicism involving multiple chromosomal imbalances and/or imbalances affecting a high proportion of cells in an embryo appear to impair development to the blastocyst stage. (
  • 12] In revertant mosaicism, the healthy tissue formed by mitotic recombination can outcompete the original, surrounding mutant cells in tissues such as blood and epithelia that regenerate often. (
  • Mosaicism is a condition where an individual's cells are genetically variegated. (
  • Happle R (1986) The McCune-Albright syndrome: a lethal gene surviving by mosaicism. (
  • Spontaneous fertility is rare among patients with Turner syndrome and is most likely in women with mosaicism for a normal 46,XX cell line. (
  • We report an unusual case of familial Turner syndrome with mosaicism for a novel X;Y translocation involving Xp and Yp. (
  • [1] Patients with 45,X/46,XY mosaicism benefit from growth hormone therapy, similar to patients with Turner syndrome and as demonstrated in our patient. (
  • Somatic NLRP3 mosaicism in Muckle-Wells syndrome. (
  • Employing a combination of HD-aCGH and novel ddPCR approaches, we have demonstrated, for the first time, that XLAG syndrome can be caused by variable degrees of somatic mosaicism for duplications at chromosome Xq26.3. (
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  • Familial trisomy 7 mosaicism. (
  • Compared with familial male XLAG cases, sporadic males had more marked evidence for mosaicism, with levels of Xq26.3 duplication between 16.1 and 53.8% These characteristics were replicated using a novel, personalized breakpoint junction-specific quantification droplet digital polymerase chain reaction (ddPCR)technique. (
  • The present study characterized mosaicism at each stage of cleavage division and examined its effect on preimplantation development in vitro . (
  • CONCLUSIONS: Post-zygotic errors leading to mosaicism may occur, and persist throughout preimplantation development in vitro . (
  • 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. (
  • Incidence and outcome of chromosomal mosaicism found at the time of chorionic villus sampling. (
  • Three cell line mosaicism involving structural and numerical a. (
  • Three cell line mosaicism involving structural and numerical abnormalities of chromosome 18 in a 3.5-year-old girl: 47,XX,+18/47,XX,+del(18)(q22)/46,XX. (
  • We think this case is the first described with both structural and numerical trisomic mosaicism involving chromosome 18 in a liveborn infant. (
  • In one case pregnancy was terminated after amniocentesis also showed 45,X/46,XX mosaicism. (
  • Saks et al (1998) reported on a case of, what appeared to be, confined placental mosaicism for trisomy 8. (
  • A comparison of the frequencies of trisomy 21, mosaicism , and translocation DS of the current study with results of previous international studies was carried out. (
  • There is no increased risk of either mosaicism or translocation with increased maternal age. (