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.
Viruses which produce a mottled appearance of the leaves of plants.
The type species of TOBAMOVIRUS which causes mosaic disease of tobacco. Transmission occurs by mechanical inoculation.
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 possession of a third chromosome of any one type in an otherwise diploid cell.
A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.
A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,XX; 45,X/46,XX/47,XXX; 46,XXp-; 45,X/46,XY; 45,X/47,XYY; 46,XYpi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,XX or 46,XY constitution.
Mapping of the KARYOTYPE of a cell.
The type species of the genus ALFAMOVIRUS that is non-persistently transmitted by aphids.
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
The presence in a cell of two paired chromosomes from the same parent, with no chromosome of that pair from the other parent. This chromosome composition stems from non-disjunction (NONDISJUNCTION, GENETIC) events during MEIOSIS. The disomy may be composed of both homologous chromosomes from one parent (heterodisomy) or a duplicate of one chromosome (isodisomy).
A genus of plant viruses of the family BROMOVIRIDAE, which infect cucurbits and solanaceous plants. Transmission occurs via aphids in a non-persistent manner, and also via seeds. The type species Cucumber mosaic virus, a CUCUMOVIRUS, should not be confused with Cucumber green mottle mosaic virus, a TOBAMOVIRUS.
A plant genus of the family SOLANACEAE. Members contain NICOTINE and other biologically active chemicals; its dried leaves are used for SMOKING.
The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
A group of rare autosomal dominant diseases, commonly characterized by atypical URTICARIA (hives) with systemic symptoms that develop into end-organ damage. The atypical hives do not involve T-cell or autoantibody. Cryopyrin-associated periodic syndrome includes three previously distinct disorders: Familial cold autoinflammatory syndrome; Muckle-Wells Syndrome; and CINCA Syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 protein mutations.
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.
A genus of PLANT VIRUSES, in the family CAULIMOVIRIDAE, that are transmitted by APHIDS in a semipersistent manner. Aphid-borne transmission of some caulimoviruses requires certain virus-coded proteins termed transmission factors.
Plants or plant parts which are harmful to man or other animals.
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.
Diseases of plants.
A genus of plant viruses of the family COMOVIRIDAE in which the bipartite genome is encapsidated in separate icosahedral particles. Mosaic and mottle symptoms are characteristic, and transmission is exclusively by leaf-feeding beetles. Cowpea mosaic virus is the type species.
A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
Aberrant chromosomes with no ends, i.e., circular.
Viral proteins that facilitate the movement of viruses between plant cells by means of PLASMODESMATA, channels that traverse the plant cell walls.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
An autosomal dominant disorder characterized by a high incidence of bilateral acoustic neuromas as well as schwannomas (NEURILEMMOMA) of other cranial and peripheral nerves, and other benign intracranial tumors including meningiomas, ependymomas, spinal neurofibromas, and gliomas. The disease has been linked to mutations of the NF2 gene (GENES, NEUROFIBROMATOSIS 2) on chromosome 22 (22q12) and usually presents clinically in the first or second decade of life.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
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 method for diagnosis of fetal diseases by sampling the cells of the placental chorionic villi for DNA analysis, presence of bacteria, concentration of metabolites, etc. The advantage over amniocentesis is that the procedure can be carried out in the first trimester.
Group of genetically determined disorders characterized by the blistering of skin and mucosae. There are four major forms: acquired, simple, junctional, and dystrophic. Each of the latter three has several varieties.
A genus of tripartite plant viruses in the family BROMOVIRIDAE. Transmission is by beetles. Brome mosaic virus is the type species.
Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.
A large genus of plant viruses of the family POTYVIRIDAE which infect mainly plants of the Solanaceae. Transmission is primarily by aphids in a non-persistent manner. The type species is potato virus Y.
An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered.
Determination of the nature of a pathological condition or disease in the OVUM; ZYGOTE; or BLASTOCYST prior to implantation. CYTOGENETIC ANALYSIS is performed to determine the presence or absence of genetic disease.
The male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans and in some other male-heterogametic species in which the homologue of the X chromosome has been retained.
Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.
Ribonucleic acid that makes up the genetic material of viruses.
The short, acrocentric human chromosomes, called group G in the human chromosome classification. This group consists of chromosome pairs 21 and 22 and the Y chromosome.
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.
Viruses parasitic on plants higher than bacteria.
A genus of plant viruses, in the family TYMOVIRIDAE, possessing a narrow host range that includes CRUCIFERAE. Transmission occurs by BEETLES and mechanical inoculation.
A genus of plant viruses in which the virion is a rigid filament. Transmission is by mechanical inoculation or seed. The type species is TOBACCO MOSAIC VIRUS.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
The protoplasm and plasma membrane of plant, fungal, bacterial or archaeon cells without the CELL WALL.
A genus of plant viruses in the family FLEXIVIRIDAE, that cause mosaic and ringspot symptoms. Transmission occurs mechanically. Potato virus X is the type species.
A number of syndromes with defective gonadal developments such as streak GONADS and dysgenetic testes or ovaries. The spectrum of gonadal and sexual abnormalities is reflected in their varied sex chromosome (SEX CHROMOSOMES) constitution as shown by the karyotypes of 45,X monosomy (TURNER SYNDROME); 46,XX (GONADAL DYSGENESIS, 46XX); 46,XY (GONADAL DYSGENESIS, 46,XY); and sex chromosome MOSAICISM; (GONADAL DYSGENESIS, MIXED). Their phenotypes range from female, through ambiguous, to male. This concept includes gonadal agenesis.
A characteristic symptom complex.
The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.
An individual that contains cell populations derived from different zygotes.
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)
A satellite RNA (not a satellite virus) which has several types. Different cucumoviruses can act as helper viruses for different types.
Malva mosaic virus "00.057.0.81.049. Malva vein clearing virus". ICTVdB Management. International Committee on Taxonomy of ... MVCV causes vein clearing and yellow mosaicism. This virus has been reported from Tasmania, Brazil, the former Czechoslovakia, ...
It has been reported in both the non-mosaic as well as the mosaic state. (The phrase "mosaicism" in this context means that ... Individuals with mosaicism are typically less severely affected than non-mosaic individuals. At present, treatment for ...
The lesions appear to be distributed in a mosaic manner. It has been confirmed that the disorder is an example of genetic ... Cardoso MT, de Carvalho TB, Casulari LA, Ferrari I (2003). "Proteus syndrome and somatic mosaicism of the chromosome 16". ... identified an activating mutation in AKT1 kinase in a mosaic state gene. Previous research had suggested the condition linked ... "A mosaic activating mutation in AKT1 associated with the Proteus syndrome". N Engl J Med. 365 (7): 611-9. doi:10.1056/ ...
Alternatively, genetic mosaicism could mean that the number of certain varieties of fig in an ecosystem may be far lower than ... Thomson, J.D.; Herre, E.A.; Hamrick, J.L.; Stone, J.L. (1995-11-22). "Genetic Mosaics in Strangler Fig Trees: Implications for ... F. citrifolia may fuse with figs of other species types, creating a cumulate tree that is a genetic mosaic. Research suggests ... it is unknown how this variation effects flowering in mosaic figs. (Thomson et al., 1995). Thomson et al. suggest that if ...
Mosaicism may be one possible cause for the rare occurrence of brindle coloring in horses. Mosaic-white horses would be ... Mosaicism could produce white or partially white foals if a stem cell in the developing foal underwent a mutation, or change to ... A mosaic mutation may or may not be inheritable, depending on the cell populations affected. Though this is not always the case ... Mosaicism refers to mutations that occur after the single-cell stage, and therefore affect only a portion of the adult cells. ...
Selection in mammalian mosaic cell populations. Cold Spring Harb Symp Quant Biol 29: 253-260 Linder, D & Gartler, SM. 1965 ... Glucose-6-phosphate dehydrogenase mosaicism: utilization as a cell marker in the study of leiomyomas. Science 150:67-69 Linder ... The female thus becomes a mosaic for any X-linked gene for which she is heterozygous, and normal tissues are therefore composed ...
The people are "mosaics" of normal and abnormal cells, so this disorder is called "numerical mosaicism". This mosaicism, ... Over time many specialists have switched to blastocyst biopsies, which provide a lower level of mosaicism, but blastomere ...
As a result the individual is considered to be a mosaic of normal and abnormal cells. Mosaicism is the occurrence of two or ... The rest of trisomy 21 mosaics are marked as "low- grade" mosaics, meaning the chromosomal mutation occurs in less than 3-5% of ... While high- grade trisomy 21 mosaics, demonstrate similar features to full Down Syndrome, low- grade mosaics have a tendency to ... Hultén, Maj A.; Jonasson, Jon; Nordgren, Ann; Iwarsson, Erik (2010-09-01). "Germinal and Somatic Trisomy 21 Mosaicism: How ...
... (also tetrasomy 12p mosaicism or Pallister mosaic aneuploidy syndrome) is an extremely rare genetic ... Because not all cells have the extra isochromosome, Pallister-Killian is a mosaic condition (more readily detected in skin ... tissue-specific mosaicism and loss of i(12p) by in vitro selection". Am J Med Genet. 72 (1): 106-110. doi:10.1002/(SICI)1096- ...
... genomes can be highly mosaic, i.e. the genome of many phage species appear to be composed of numerous individual ... Mycobacteriophages, bacteriophages with mycobacterial hosts, have provided excellent examples of this mosaicism. In these ...
April 2014). "Phenotypic differences in mosaic Klinefelter patients as compared with non-mosaic Klinefelter patients". ... Another possible mosaicism is 47,XXY/46,XX with clinical features suggestive of KS and male phenotype, but this is very rare. ... To investigate the presence of a possible mosaicism, analysis of the karyotype using cells from the oral mucosa is performed. ... Approximately 15-20% of males with KS may have a mosaic 47,XXY/46,XY constitutional karyotype and varying degrees of ...
... cell migration patterns and are seen in some mosaic genetic disorders such as incontinentia pigmenti and pigment mosaicism. ...
Women with Turner syndrome whose karyotype includes a Y chromosome (as in 45,X/46,XY mosaicism) are at increased risk for ... Because of the risk of gonadoblastoma, individuals with Turner syndrome with detectable Y chromosome material (Mosaic Turner ... Bianco B, Lipay MV, Melaragno MI, Guedes AD, Verreschi IT (2006). "Detection of hidden Y mosaicism in Turner's syndrome: ...
Another case of mosaicism has been observed in a 15-year-old girl with a neocentric X chromosome. Her clinical features, along ... One of the two previous cases was also confirmed to be Turner syndrome but was not mosaic. An interaction of interest here ... However, in contrary, others also think that mosaicism could be developed post-zygotically and hence may not be a result of ... Taking into account that only fewer than 5% of Turner syndrome cases are mosaic, one may consider, likewise with neocentromere ...
... mosaicism affects wide areas of chromosome 8 containing many genes, and can thus be associated with a range of ... Mosaic trisomy 8 has been reported in rare cases of Rothmund-Thomson syndrome, a genetic disorder associated with the DNA ... 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 ...
Mosaicism for aneuploid chromosome content may be part of the constitutional make-up of the mammalian brain. In the normal ... In general, individuals who are mosaic for a chromosomal aneuploidy tend to have a less severe form of the syndrome compared to ... Somatic mosaicism occurs in virtually all cancer cells, including trisomy 12 in chronic lymphocytic leukemia (CLL) and trisomy ... For many of the autosomal trisomies, only mosaic cases survive to term. However, mitotic aneuploidy may be more common than ...
However, fluorescence in situ hybridization (FISH) tests remain valuable for diagnosing cases of mosaicism (mosaic genetics) ...
This mixture is called mosaicism. A higher degree[clarification needed] (percentage) of mosaicism appears to be associated with ... Since the range in age of onset of seizures and IQ for a given mosaic ratio is relatively wide, prediction of phenotype based ... 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 ...
mosaicism The presence of two or more populations of cells with different genotypes in an individual organism which has ... A mosaic organism can result from many kinds of genetic phenomena, including nondisjunction of chromosomes, endoreplication, or ... 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 ...
... gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only ... "High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic ...
Only mosaic cases exist and these usually present with severe symptoms such as intellectual disability, ocular colobomata, ... Cantú ES, Thomas IT, Frias JL (September 1989). "Unusual cytogenetic mosaicism involving chromosome 14 abnormalities in a child ... ISBN 0-683-03445-6. McConnell V, Derham R, McManus D, Morrison PJ (July 2004). "Mosaic monosomy 14: clinical features and ...
The intellectual abilities of known XYYY cases have varied, especially in cases with mosaicism, but in most cases are in the ... Only twelve cases have been reported in the medical literature, in addition to four mosaic cases. As the related XYY syndrome ... All adult men with a non-mosaic 48,XYYY karyotype known to the medical literature have been azoospermic, though one man ... Another case of non-mosaic 48,XYYY would not be reported until 1972, highlighting the rarity of the syndrome. As karyotyping at ...
"Lesson 3: Mosaicism". Retrieved 2007-10-16. "Genetics of Calico Color". "Genetic Mosaicism". Retrieved 2007-10-28. "Lesson 1: ... Individuals who possess cells with genetic differences from the other cells in their body are termed mosaics. These differences ... Mosaicism also results from a phenomenon known as X-inactivation. All female mammals have two X chromosomes. To prevent lethal ... on in development will affect a greater number of cells and can result in an individual that can be identified as a mosaic ...
In mosaic individuals, cells with X monosomy (45,X) may occur along with cells that are normal (46,XX), cells that have partial ... The chromosomal abnormality may be present in just some cells in which case it is known as TS with mosaicism. In these cases, ... Considering other karyotype groups, though, they reported a prevalence of 24.3% and 11% in people with mosaic X monosomy, and a ... The fetuses diagnosed through positive maternal serum screening are more often found to have a mosaic karyotype than those ...
Diploid-triploid Mosaics among Unisexual Hybrids of the Minnows Phoxinus-Eos and Phoxinus-Neogaeus. Copeia, 3: 650-660. ... 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 ...
... mosaic trisomy Chromosome 8, partial trisomy Chromosome 8, trisomy 8p Chromosome 8, trisomy 8q Chromosome 8, trisomy Chromosome ... trisomy mosaicism Chromosome 15q, partial deletion Chromosome 15q, tetrasomy Chromosome 15q, trisomy Chromosome 16 - Chromosome ... trisomy mosaic Chromosome 9, trisomy Chromosomes Chromosomes 1 and 2, monosomy 2q duplication 1p Chronic berylliosis Chronic ... trisomy mosaic Chromosome 8 - Chromosome 9 Chromosome 8 deletion Chromosome 8 ring Chromosome 8, monosomy 8p Chromosome 8, ...
... systematic studies on the mechanisms of the mosaic color patterns of maize seed and the unstable inheritance of this mosaicism ... The transposition of Ds in different cells is random, it may move in some but not others, which causes color mosaicism. The ...
Mosaicism Mouse model mRNA mtDNA Mu particle Mu phage Mullerian mimicry Multifactorial Multihybrid Multimeric structure ... Genetic illness Genetic informatics Genetic linkage map Genetic load Genetic map Genetic marker Genetic material Genetic mosaic ... Monoecious plant Monogenic disorder Monohybrid Monohybrid cross Monoploid Monosomic Monosomy Morbid map Morphogenesis Mosaic ( ...
Mosaic karyotypes, with both 48,XXXX and 49,XXXXX cells, are also possible. Though very few mosaic cases have been reported, ... However, in rare cases, pentasomy X may be related to chromosomal mosaicism in a parent. X inactivation is a major factor in ... In rare cases, it may be related to a parent's chromosomal mosaicism. The karyotype observed in pentasomy X is formally known ... Wood A, Kleis L, Toriello H, Cemeroglu AP (17 May 2011). "Mosaic Pentasomy X/Tetrasomy X Syndrome and Premature Ovarian Failure ...
Germline mosaicism[edit]. Main article: Germline mosaicism. Germline or gonadal mosaicism is a special form of mosaicism, where ... Different types of mosaicism exist, such as gonadal mosaicism (restricted to the gametes) or somatic mosaicism. ... In genetics, a mosaic, or mosaicism, involves the presence of two or more populations of cells with different genotypes in one ... Somatic mosaicism occurs when the somatic cells of the body are of more than one genotype. In the more common mosaics, ...
Smoking is associated with mosaic loss of chromosome Y". Science. 347 (6217): 81-3. Bibcode:2015Sci...347...81D. doi:10.1126/ ... The full range of ambiguity of structure may occur, especially if mosaicism is present. When the Y fragment is minimal and ... Men can lose the Y chromosome in a subset of cells, which is called the mosaic loss of chromosome Y (LOY). This post-zygotic ... "Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer". Nature ...
Linder D, Gartler SM (October 1965). "Glucose-6-phosphate dehydrogenase mosaicism: utilization as a cell marker in the study of ... resulting in a mosaic expression, in which patches of cells have an inactive maternal X-chromosome, while other patches have an ... should not be confused with mosaicism, which is a term that specifically refers to differences in the genotype of various cell ... "The normal human female as a mosaic of X-chromosome activity: studies using the gene for C-6-PD-deficiency as a marker" ...
This variation is also partly attributable to the incidence of mosaicism, which is relatively common in people with ring 18. ... other karyotypes/mosaics. *Klinefelter syndrome (47,XXY). *XXYY syndrome (48,XXYY). *XXXY syndrome (48,XXXY) ...
2015). "A Case Report of a Fetus with Mosaic Autosomal Variegated Aneuploidies and Literature Review". Annals of Clinical & ... 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. ...
Rare XXY/XX mosaicism in a phenotypic male with Klinefelter syndrome: case report»։ Eur J Med Genet 49 (4): 331-337։ 2006։ PMID ... A person with typical untreated (surgery/hormones) Klinefelter 46,XY/47,XXY mosaic, diagnosed at age 19 - the scar from biopsy ... Fullerton G, Hamilton M, Maheshwari A, Hamilton, Maheshwari (2010)։ «Should non-mosaic Klinefelter syndrome men be labelled as ... Molecular cytogenetic diagnosis of Klinefelter's syndrome in men more frequently detects sex chromosome mosaicism than ...
The normal human female as a mosaic of X-chromosome activity: Studies using the gene for G-6-PD deficiency as a marker. Proc ... He was also among the first scientists to identify X-inactivation as the genetic basis of tissue mosaicism in female mammals, ... He soon determined that random X chromosome inactivation causes tissue mosaicism in female mammals, in that each somatic cell ...
... diagnostic consequences of CVS mosaicism and non-mosaic discrepancy in centres contributing to EUCROMIC 1986-1992". Prenatal ... 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 ...
... genomes can be highly mosaic, i.e. the genome of many phage species appear to be composed of numerous individual ... Mycobacteriophages - bacteriophages with mycobacterial hosts - have provided excellent examples of this mosaicism. In these ...
April 2014). "Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer". ... The full range of ambiguity of structure may occur, especially if mosaicism is present. When the Y fragment is minimal and ... "Smoking is associated with mosaic loss of chromosome Y". Science. 347 (6217): 81-3. Bibcode:2015Sci...347...81D. doi:10.1126/ ...
Some anomalies, however, can happen after conception, resulting in Mosaicism (where some cells have the anomaly and some do not ... other karyotypes/mosaics. *Klinefelter syndrome (47,XXY). *XXYY syndrome (48,XXYY). *XXXY syndrome (48,XXXY) ...
Beutler E, Yeh M, Fairbanks VF (January 1962). "The normal human female as a mosaic of X-chromosome activity: Studies using the ... Linder D, Gartler SM (October 1965). "Glucose-6-phosphate dehydrogenase mosaicism: utilization as a cell marker in the study of ... Inactivation occurs on a cellular level, resulting in a mosaic expression, in which patches of cells have an inactive maternal ... should not be confused with mosaicism, which is a term that specifically refers to differences in the genotype of various cell ...
"Prenatal diagnosis of heterokaryotypic mosaic twins discordant for fetal sex". Prenat Diagn. 20 (12): 999-1003. doi:10.1002/ ... and often leads to characteristic mosaicism skin coloration in human chimeras. A chimera may be intersex, composed of cells ... "Postzygotic diploidization of triploids as a source of unusual cases of mosaicism, chimerism and twinning". Human Reproduction ...
Mosaic Down syndrome on the Web *^ Petersen MB, Tranebjaerg L, McCormick MK, Michelsen N, Mikkelsen M, Antonarakis SE. Clinical ... Mosaicism[sunting , sunting sumber]. Trisomy 21 biasanya disebabkan sebelum kehamilan, dan kesemua sel dalam badan terjejas. ... with scores of children having Mosaic Down syndrome (explained below) typically 10-30 points higher.[5] Tambahan lagi, mereka ... "FAQ from Mosaic Down Syndrome Society". Dicapai 2006-06-03.. *^ McClure HM, Belden KH, Pieper WA, Jacobson CB. Autosomal ...
Male tortoiseshells can occur as a result of chromosomal abnormalities such as Klinefelter syndrome, by mosaicism, or by a ... slightly more than a third were complicated XXY mosaics, and about a third had no XXY component at all. This color is known as ...
ISBN 0-8151-9098-0. Mosaic Down Syndrome on the Web International Mosaic Down Syndrome Association Leshin, L. (2000). "Mosaic ... Mitotic nondisjunction after conception would lead to mosaicism, and is discussed later. Some cases have been reported of ... Mosaic Down syndrome is when some of the cells in the body are normal and some cells have trisomy 21, an arrangement called a ... There is evidence that mosaic Down syndrome may produce less developmental delay, on average, than full trisomy 21. The ...
A hypothesis for the more severe outcome in females is based on X-inactivation, which leads to mosaicism. As a result, patients ... males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes", Human Molecular ...
Several cells have to be analysed to detect mosaicism. Submicroscopic chromosomal abnormalities that are too small to be ... are polysomic mosaics (coming from cells of two genetically different types) possessing an extra E group chromosome(chromosomes ...
Mosaic (genetics) Human somatic variation Campbell, Neil A., 1946-2004. (2009). Biology. Reece, Jane B. (8th ed.). San ... "somatic brain mosaicism". The accumulation of age-related mutations in neurons may be linked to neurodegenerative diseases, ...
Genetic mosaicism occurs within an organism when similar cell types express different phenotypes due to dissimilar genotypes at ... Flp-FRT can be used to construct genetic mosaics in multicellular organisms. Using this technology, the loss or alteration of a ... Embryoes, injected with FLPe, had significantly reduced expression of EGFP in muscle tissue, and mosaicism was seen also. When ...
Alyssa Bell; Luis M. Chiappe (2020). "Anatomy of Parahesperornis: evolutionary mosaicism in the Cretaceous Hesperornithiformes ... who report that this taxon possessed a mosaic of basal and derived traits found among other hesperornithiform taxa. A study on ...
... or mosaicism, the presence of two populations of cells with different genotypes in one individual Mosaic evolution, a theory of ... 1971 Mosaics (Mark Heard album), 1985 Mosaic, a 2006 album by Lenny Breau Mosaic a 2010 album by Ricky Skaggs MOSAiC Expedition ... 2017 Mosaic (Art Blakey album), 1962 Mosaic (Love of Diagrams album), 2007 Mosaic (Wang Chung album), 1986 Mosaic (Woven Hand ... Mosaic may also refer to: Mosaic Magazine, an American Jewish magazine established in 2013 Mosaic: Pieces of My Life So Far, a ...
Schwartz S, Raffel LJ, Sun CC, Waters E (October 1992). "An unusual mosaic karyotype detected through prenatal diagnosis with ... and ring X chromosome mosaicism. However, this theory is still inconclusive, as there have been other studies that have shown ... "Second trimester prenatal diagnosis of epignathus teratoma in ring X chromosome mosaicism with inactive ring X chromosome". ...
... will enable genetic counselors to determine the risk of fetal involvement and the clinical relevance of an identified mosaic ... Objectives: Chromosomal mosaicism in chorionic villi (CV) is detected in ~1-2% of cases. When a mosaic in CV is detected during ... Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up ... true fetal mosaicism (TFM)]. We determined the likelihood that any mosaic abnormalities identified through CV samples are ...
Mosaicism: Thinking in Mosaic. October 4, 2019. By In August 2019 I concluded my PhD with a major solo exhibition called ... Mosaicism: Thinking in Mosaic, held at Lot19 Gallery in Castlemaine, Victoria. The culmination of four years of research and 30 ... biodegradable mosaic). wood ash, coconut fibre, human and dog hair, glass smalti, marble, bamboo, latex, PVA and video. 2019. ... biodegradable mosaic). wood ash, coconut fibre, human and dog hair, glass smalti, marble, bamboo, latex, PVA. 2019. collection ...
Mosaic (genetics) explanation free. What is Mosaic (genetics)? Meaning of Mosaic (genetics) medical term. What does Mosaic ( ... Looking for online definition of Mosaic (genetics) in the Medical Dictionary? ... cellular mosaicism. (redirected from Mosaic (genetics)). Also found in: Dictionary, Thesaurus, Encyclopedia, Wikipedia. ... Related to Mosaic (genetics): chromosomal mosaic. cel·lu·lar mo·sa·i·cism. a chimerism in which a tissue contains cells from ...
Non-RNase IIIb mosaic mutations are likely to exist, and we predict that the phenotype caused by non-RNase IIIb mosaic ... Inspection of suspected mosaic mutations. Initial analysis of the suspected mosaic missense mutations in the HaloPlexHS data ... The fourth case is also likely to be a mosaic for DICER1. These mosaic missense mutations were localised to hotspots within ... Therefore, we predict that non-RNase IIIb mosaic DICER1 mutations, like mosaic mutations in FAP and NF, will cause a disease ...
Mosaicism is a condition in which cells within the same person have a different genetic makeup. This condition can affect any ... 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. ... Mosaicism is caused by an error in cell division very early in the development of the unborn baby. Examples of mosaicism ...
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 ... Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome. . Am. J. Hum. Genet. 87, 129-138 ... Detectable clonal mosaicism from birth to old age and its relationship to cancer. *Cathy C Laurie1. n38, n39*, Cecelia A Laurie ...
Germline mosaicism[edit]. Main article: Germline mosaicism. Germline or gonadal mosaicism is a special form of mosaicism, where ... Different types of mosaicism exist, such as gonadal mosaicism (restricted to the gametes) or somatic mosaicism. ... In genetics, a mosaic, or mosaicism, involves the presence of two or more populations of cells with different genotypes in one ... Somatic mosaicism occurs when the somatic cells of the body are of more than one genotype. In the more common mosaics, ...
Detectable clonal mosaic events plotted by proportion of abnormal cells (p) and Log R Ratio (LRR) for 681 events in 517 ... Detectable clonal mosaicism and its relationship to aging and cancer.. Jacobs KB1, Yeager M, Zhou W, Wacholder S, Wang Z, ... We observed mosaic abnormalities, either aneuploidy or copy-neutral loss of heterozygosity, of ,2 Mb in size in autosomes of ... Genomic location of detectable clonal mosaic events. Outer rings are the autosomes 1 to 22. Yellow region denotes events of ...
Mosaicism* * Nucleic Acid Hybridization * Polymerase Chain Reaction * Sequence Homology, Nucleic Acid * beta-Galactosidase / ... Transposition of such mosaic elements may have a significant impact on diversity and evolution, not only of transposons and ... Mobility and generation of mosaic non-autonomous transposons by Tn3-derived inverted-repeat miniature elements (TIMEs) PLoS One ...
The chromosome patterns observed were classified into four groups; normal, abnormal (non-mosaic), mosaic and chaotic ( ... Two embryos only were aneuploid (non-mosaic) throughout but, after excluding those showing chaotic division, 30% were ... Multicolour FISH detects frequent chromosomal mosaicism and chaotic division in normal preimplantation embryos from fertile ... whereas the majority were ploidy mosaics, with haploidy being the most common. The occurrence of chaotically dividing embryos ...
Pallister-Killian mosaic syndrome is a developmental disorder that affects many parts of the body. Explore symptoms, ... This situation is called mosaicism. . Almost all cases of Pallister-Killian mosaic syndrome are caused by mosaicism for an ... Pallister-Killian mosaic syndrome appears to be a rare condition, although its exact prevalence is unknown. This disorder may ... Pallister-Killian mosaic syndrome is usually caused by the presence of an abnormal extra chromosome called an isochromosome 12p ...
6. an organism exhibiting mosaicism. adj. 7. pertaining to, resembling, or used for making a mosaic or mosaic work: a mosaic ... arial mosaic, mosaic. photo, photograph, pic, exposure, picture - a representation of a person or scene in the form of a print ... 3. something resembling a mosaic, esp. in being made up of diverse elements: a cultural mosaic. ... to decorate with mosaic. [1350-1400; Middle English , Middle French mosaïque , Italian mosaico , Medieval Latin musaicum; orig ...
6. an organism exhibiting mosaicism. adj. 7. pertaining to, resembling, or used for making a mosaic or mosaic work: a mosaic ... Mosaic - a freeware browser. 4.. mosaic - a pattern resembling a mosaic. pattern, form, shape - a perceptual structure; "the ... mosaic. [məʊˈzeɪɪk] n → mosaico. mosaic. (məˈzeiik) noun. (the art of making) a design formed by fitting together small pieces ... Mosaic. [məʊˈzeɪɪk] ADJ → mosaico. mosaic. [məʊˈzeɪɪk] N → mosaico m ...
As noted above, mosaic trisomy 9 is characterized by an extra 9th chromosome (trisomy 9) in some cells of the body (mosaicism ... However, those with a mosaicism have two or more cell lines that are chromosomally distinct. In individuals with mosaic trisomy ... high mosaicism). The percentage of mosaicism can fluctuate depending on where the sample is drawn (cheek swab versus blood for ... Mosaic Trisomy 9 may be caused by errors during the division of a parents egg or sperm or during the division of body tissue ...
... - DIAGNOSTIC TESTING USING NGS REVEALS A HIGH RATE OF - Somatic Mutations in ... Unrevealed mosaicism in the next-generation sequencing era. In addition, mosaic mutations at higher allele fractions are ... How to detect mosaicism in sanger sequencing Diagnosis of NLRP3 somatic mosaicism in CINCA/NOMID. Taking science further beyond ... A case of low frequent somatic and/or germline mosaicism. The identification of Von Hippel-Lindau (VHL) mosaic mutations by ...
Mosaic Down syndrome is a rare, less severe form of Down syndrome. We explain the condition, its cause, symptoms, and how to ... Whats mosaic Down syndrome?. Mosaic Down syndrome, or mosaicism, is a rare form of Down syndrome. Down syndrome is a genetic ... Mosaic Down syndrome occurs in about 2 percent. of all Down syndrome cases. People with mosaic Down syndrome often, but not ... Mosaic Down syndrome is typically described through a percentage. To confirm mosaic Down syndrome, doctors will analyze ...
Brain somatic mosaicism might contribute to individualized behavioral phenotypes and has been associated with several ... Brain somatic mosaicism might contribute to individualized behavioral phenotypes and has been associated with several ... Therefore, understanding the causes and consequences of somatic mosaicism in neural circuits is of great interest. Recent ... Therefore, understanding the causes and consequences of somatic mosaicism in neural circuits is of great interest. Recent ...
Mosaic (Mosaicism). A tissue containing two or more genetically distinct cell types, or an individual composed of such tissues. ...
Speckled lentiginous naevus and Beckers naevus follow a mosaic checkerboard pattern; mosaic trisomy of chromosome 13 causes ... I show how to predict the expected amount of mosaicism and the variation in mosaicism between individuals. I then calculate the ... I also show how to predict the amount of genetic mosaicism in an individual and the variation in mosaicism between individuals ... Simple theory tells us that this widespread mosaicism must be present. But few measurements of mosaicism have been accomplished ...
This approach has already reduced mosaicism in monkey embryos. An alternative would be to fix the DNA inside stem cells from ... Mosaic problem stands in the way of gene editing embryos. The first results of gene editing in viable human embryos reveals it ... Mosaic of cells. The team managed to correct mutations in three out of six embryos, suggesting CRISPR repair is more efficient ... "Mosaicism would need to be solved before embryos can be gene edited to correct a disease" ...
MosaicVer 2. * MosaicismVer 2. * Motor. * Motor nerve. * Motor neurone disease ...
... 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? ... Condition of being mosaic (2).. mosaicism. /mo·sa·i·cism/ (mo-za´ĭ-sizm) in genetics, the presence in an individual of two or ... Condition of being mosaic (2). mosaicism. The state in which two or more genetically different types of cell occur in the same ...
The images show normal cone mosaic patterns and no abnormal patch lesions. ... Cellular imaging demonstrates genetic mosaicism in heterozygous carriers of an X-linked ciliopathy gene.. Pyo Park S1, Hwan ... Cellular imaging demonstrates genetic mosaicism in heterozygous carriers of an X-linked ciliopathy gene ... Cellular imaging demonstrates genetic mosaicism in heterozygous carriers of an X-linked ciliopathy gene ...
Mosaicism. Pathogenic DMD variants can be present in the mosaic state, both somatic and germline. ... facilitates the detection of DMD mosaicism, providing more insights about these rare phenotypes and the levels of mosaicism in ... Males with mosaicism for DMD variants have also been reported, though very rarely [83, 84]. They generally present with milder ... Somatic mosaicism has only been described in a few rare cases, mostly in females. Identifying these individuals is, however, ...
... diagnostic consequences of CVS mosaicism and non-mosaic discrepancy in centres contributing to EUCROMIC 1986-1992". Prenatal ... 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 ...
Mosaicism is a condition in which cells within the same person have a different genetic makeup. This condition can affect any ... They may not discover that they have mosaicism until they give birth to a child who has the non-mosaic form of the disease. ... Also known as: Chromosomal mosaicism and Gonadal mosaicism. Definition. Mosaicism is a condition in which cells within the same ... Sometimes a child born with the non-mosaic form will not survive, but a child born with mosaicism will. ...
There is growing evidence for parental mosaicism that results in affected... ... The mosaic parent exhibits phenotypic features of a mild form of the disease. Human Mutation 1: 47-54CrossRefPubMedGoogle ... Hall JG (1988) Somatic mosaicism: observations related to clinical genetics. Am J Hum Genet 43: 355-363PubMedGoogle Scholar ... Mottes M, Lira MMG, Valli M, Scarano G, Lonarda F, Forlino A, Cetta G, Pignatti PF (1993) Paternal mosaicism for a COL1A1 ...
Buy Mosaicism in Human Skin: Understanding Nevi, Nevoid Skin Disorders, and Cutaneous Neoplasia (2014 ed.) by Rudolf Happle ... MOSAIC SKIN DISORDERS: Nevi.- Melanocytic Nevi.- Other Forms of Pigmentary Mosaicism.- Epidermal Nevi.- Vascular Nevi.- ... 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 ...
A mosaic Adam model would require mosaicism within cells (spermatogonia) in a single tissue (germinal epithelium). ... Others have asked me why I speculate on a mosaic Eve rather than on a mosaic (or chimeric) Adam and Eve. My speculation is ... Mosaic Eves Population Effect. The Bible seems to indicate that Eve was created in a postpubescent state. We can infer that, ... So, does a mosaic model get us any closer to an intermediate dating for Adam and Eve, a date consistent with RTBs sole- ...
An example of mosaicism is mosaic Down syndrome.. About 95 percent of people with Down syndrome have trisomy 21, where there is ... 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 ... 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 ...
  • In rare cases, intersex conditions can be caused by mosaicism where some cells in the body have XX and others XY chromosomes ( 46, XX/XY ). (wikipedia.org)
  • [4] [5] In the fruit fly Drosophila melanogaster , where a fly possessing two X chromosomes is a female and a fly possessing a single X chromosome is a sterile male, a loss of an X chromosome early in embryonic development can result in sexual mosaics, or gynandropmorphs . (wikipedia.org)
  • An example of this is one of the milder forms of Klinefelter syndrome , called 46/47 XY/XXY mosaic wherein some of the patient's cells contain XY chromosomes, and some contain XXY chromosomes. (wikipedia.org)
  • Those with diploid triploid mosaicism have some cells which are triploid, meaning that they have three copies of chromosomes, or a total of 69 chromosomes. (wikipedia.org)
  • To confirm mosaic Down syndrome, doctors will analyze chromosomes from 20 cells. (healthline.com)
  • If 5 cells have 46 chromosomes and 15 have 47 chromosomes, a baby has a positive mosaic Down syndrome diagnosis. (healthline.com)
  • Trisomy 8 mosaicism syndrome (T8mS) is a condition that affects human chromosomes. (healthline.com)
  • The effect of mosaicism varies with the proportion of cells containing abnormal chromosomes. (thefreedictionary.com)
  • Genomic Mosaicism of X Chromosomes. (whsmith.co.uk)
  • 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). (stlouischildrens.org)
  • If five of the 20 are normal (46 chromosomes), while the other 15 have an extra #21 chromosome (47 chromosomes), the baby would be said to have mosaic Down syndrome. (stlouischildrens.org)
  • Mosaic patterns also arise in all females due to X-chromosome inactivation: females carry two X-chromosomes, one of which is inactivated early in embryogenesis to prevent overexpression of X-chromosome genes. (royalsocietypublishing.org)
  • In Down syndrome, mosaicism means that some cells of the body have trisomy 21, and some have the typical number of chromosomes. (imdsa.org)
  • However, I would consider transferring it if the mosaic results do not suggest trisomy in chromosomes 13, 18, or 21, or any aneuploidy in the sex chromosomes. (ivf-infertility.com)
  • Mammalian females are usually mosaic because one of their X chromosomes is randomly inactivated during development. (t-vox.org)
  • 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. (elsevier.com)
  • A previous whole-exome sequencing study using DNA derived from peripheral blood identified mosaic mutations in DICER1 in two children with overgrowth and developmental delay as well as more typical phenotypes of germline DICER1 mutation. (bmj.com)
  • However, very-low-frequency mosaicism is difficult to detect, and thus, causal mutations can go unnoticed. (bmj.com)
  • We implemented three different targeted-capture technologies, including the novel HaloPlex HS (Agilent Technologies), followed by deep sequencing, and confirmed that the identified mutations are mosaic in origin in three patients, detectable in 0.24-31% of sequencing reads in constitutional DNA. (bmj.com)
  • Conclusions Mosaic DICER1 mutations are an important cause of the DICER1 syndrome in patients with severe phenotypes and often appear to be accompanied by second somatic truncating mutations or LOH in the associated tumours. (bmj.com)
  • 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. (blackcatbar.com)
  • 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. (blackcatbar.com)
  • We have made an evaluation of mutation detection techniques for their abilities to detect mosaic mutations. (blackcatbar.com)
  • If so, then the risk of ALS would be influenced by developmental mutations and the consequent variation in genetic mosaicism. (pnas.org)
  • 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 ). (pnas.org)
  • 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). (thefreedictionary.com)
  • Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability. (sigmaaldrich.com)
  • Somatic mosaicism the presence of genetically distinct populations of somatic cells in a given organism due to DNA mutations/damage or chromosome abnormalities. (messybeast.com)
  • The use of genetic mosaics has facilitated the discovery of a wide variety of developmental processes, identified specific cell lineages, allowed the study of recessive embryonic lethal mutations, and demonstrated the existence of cell competition. (genetics.org)
  • Two studies in today's Nature Neuroscience , led by researchers at Boston Children's Hospital, Brigham and Women's Hospital (BWH), and Harvard Medical School (HMS), implicate mosaic mutations arising during embryonic development as a cause of autism spectrum disorder (ASD). (news-medical.net)
  • Mosaic mutations affect only a portion of a person's cells. (news-medical.net)
  • When mosaic mutations occur during embryonic development, they can appear in the brain and affect the function of neurons. (news-medical.net)
  • The first study used deep, ultra-high-resolution whole-genome sequencing to quantify and characterize mosaic mutations in the frontal cortex of people with and without ASD. (news-medical.net)
  • When the researchers examined samples of brain tissue from 59 deceased people with ASD and 15 controls -- the largest cohort of brain samples ever studied -- they found that most of the brains had mosaic 'point' mutations (alterations in a single 'letter' of genetic code). (news-medical.net)
  • They calculated that embryos acquire several such mutations with each cell division, and estimate that about half of us carry potentially harmful mosaic mutations in at least 2 percent of our brain cells. (news-medical.net)
  • In the brains of people with ASD, however, mosaic mutations were more likely to affect parts of the genome that have a pivotal role in brain function. (news-medical.net)
  • They used blood as a proxy for brain tissue and applied novel computational techniques to sensitively detect mosaic mutations that likely arose during embryonic development. (news-medical.net)
  • 0 1996 Wiley-Liss, Inc. KEY WORDS: fragile X, mosaic, epithelium, buccal, full mutation INTRODUCTION Typical individuals with fragile X syndrome have full mutations in the F M R l gene that are readily detectable in peripheral blood DNA. (docme.ru)
  • 1995133. Mosaicism in which both full mutations and premutations are present in the same individual is well documented in the affected population, and has been investigated as an indicator of phenotypic severity. (docme.ru)
  • GNAS and GPR101 mutations that arise in early embryonic age can lead to somatic mosaicism involving the pituitary gland and resulting in growth hormone excess. (aacrjournals.org)
  • Methods and results We observed the same missense mutation within the DICER1 RNase IIIb domain in multiple tumours from different sites in each patient, raising suspicion of somatic mosaicism. (bmj.com)
  • The mosaic origin of patient 4's mutation remains to be unequivocally established. (bmj.com)
  • [3] Mosaicism can also result from a mutation in one cell during development in which the mutation is passed on to only its daughter cells. (wikipedia.org)
  • [11] Somatic mosaics have been created in Drosophila using X‑ray treatment and the use of irradiation to induce somatic mutation has been a useful technique in the study of genetics. (wikipedia.org)
  • Somatic mutation leading to mosaicism is prevalent in the beginning and end stages of human life. (wikipedia.org)
  • mosaic) mutation detection and a good method for verification of mosaicism identified with conventional Sanger sequencing. (blackcatbar.com)
  • A mutation in development carries forward to all descendant cells, causing genetic mosaicism. (pnas.org)
  • Mosaicism due to mutation is less common. (thefreedictionary.com)
  • This situation poses a difficult task for the geneticist because a mosaic parent may appear clinically healthy while carrying the mutation in a fraction of her or his gonadal cells. (springer.com)
  • We identified the responsible collagen mutation in the COL1A2 gene (Gly688Ser in the α2(I)-chain) in both children and demonstrated the father to be a somatic mosaic for this mutation and to have subtle clinical signs such as soft skin and short stature that may be a result of his mosaic state. (springer.com)
  • Cohn DH, Starman BJ, Blumberg B, Byers PH (1990) Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1). (springer.com)
  • Edwards MF, Wenstrup RJ, Byers PH, Cohn DH (1992) Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. (springer.com)
  • 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. (sigmaaldrich.com)
  • This additional mutation was ruled out in the contralateral skin and in blood lymphocytes, thus confirming its mosaic state. (wiley.com)
  • Germ-line mosaicism a particular mutation early in the development of an embryo means that, later in life, some of the egg or sperm cells will carry the mutated gene which can be passed on to offspring. (messybeast.com)
  • A mutation in a stem cell will only be passed to the cells that descend from it, producing the mosaic pattern. (news-medical.net)
  • American Journal of Medical Genetics 64:309-3 12 ( 1996) A Fragile X Mosaic Male With a Cryptic Full Mutation Detected in Epithelium But Not in Blood Anne Maddalena, Karen N. Yadvish, W. Christine Spence, and Patricia N. Howard-Peebles Genetics and IVF Institute, Fairfax (A.M., K.N.Y., W.C.S., P.N.H.-P. (docme.ru)
  • The presence of the premutation could be an unrelated coincidence, or it could be a sign of mosaicism involving a full mutation in other tissues. (docme.ru)
  • Mosaicism may result from a mutation during development which is propagated to only a subset of the adult cells. (t-vox.org)
  • It was hypothesized to be caused by a mosaic mutation, lethal in the non-mosaic state. (genome.gov)
  • We conclude that a somatic mosaic activating mutation in this gene causes Proteus syndrome, validating the Happle mosaicism hypothesis. (genome.gov)
  • That this mutation is the same in all patients, mosaic, and not in a CpG dinucleotide explains the rarity of this disorder. (genome.gov)
  • We report the case of a male patient with Larsen syndrome found to be mosaic for a novel point mutation in FLNB in whom it was possible to provide evidence-based personalized counseling on transmission risk to future offspring. (soton.ac.uk)
  • [1] [2] Mosaicism has been reported to be present in as high as 70% of cleavage stage embryos and 90% of blastocyst -stage embryos derived from in vitro fertilization . (wikipedia.org)
  • Two embryos only were aneuploid (non-mosaic) throughout but, after excluding those showing chaotic division, 30% were considered to be chromosomal mosaics. (springer.com)
  • The chromosomal mosaicism has been considered as a feasible explanation for some failures after the transfer of euploid embryos. (blackcatbar.com)
  • Two of the edited embryos were mosaics - mixtures of edited and unedited cells. (newscientist.com)
  • This approach has already reduced mosaicism in monkey embryos . (newscientist.com)
  • Mitalipov's team has reportedly made progress in tackling the biggest safety issue in editing embryos: mosaicism. (newscientist.com)
  • The most obvious explanation was that he/she was born of two embryos, one male, the other female, that combined at an early stage (but not too early) and formed a mosaic individual, with patches of male and female cells. (slashdot.org)
  • Evidence of mosaicism is present in both Lulu's and Nana's embryos, as well as in Lulu's placenta, making it likely the twins themselves are mosaic. (technologyreview.com)
  • He apparently didn't realize that his own data revealed extensive mosaicism in the embryos, since he made no note of it in the manuscript I saw. (technologyreview.com)
  • Dr. Lathi is currently performing an observational trial to better understand the implantation potential of mosaic embryos. (stanford.edu)
  • Live births of healthy infants have been achieved with some embryos with mosaic results. (ivf-infertility.com)
  • Richard Scott (a leader in this field) argues that most mosaic results are actually normal embryos. (ivf-infertility.com)
  • The transfer of known mosaic embryos is very new. (ivf-infertility.com)
  • It seems almost certain that thousands upon thousands of embryos have been transferred that would have had mosaic test results had they been tested like yours was. (ivf-infertility.com)
  • The risk of mosaicism should have been another reason not to implant the embryos. (phys.org)
  • 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). (freethesaurus.com)
  • Around 30% of Turner's syndrome cases demonstrate mosaicism, while complete monosomy (45, X) occurs in about 50-60% of cases. (wikipedia.org)
  • Pallister-Killian mosaic syndrome is a developmental disorder that affects many parts of the body. (medlineplus.gov)
  • Most babies with Pallister-Killian mosaic syndrome are born with significant hypotonia, which can cause difficulty breathing and problems with feeding. (medlineplus.gov)
  • Pallister-Killian mosaic syndrome is associated with a distinctive facial appearance that is often described as "coarse. (medlineplus.gov)
  • Most children with Pallister-Killian mosaic syndrome have sparse hair on their heads, particularly around the temples. (medlineplus.gov)
  • The signs and symptoms of Pallister-Killian mosaic syndrome vary, although most people with this disorder have severe to profound intellectual disability and other serious health problems. (medlineplus.gov)
  • Pallister-Killian mosaic syndrome appears to be a rare condition, although its exact prevalence is unknown. (medlineplus.gov)
  • More than 150 people with Pallister-Killian mosaic syndrome have been reported in the medical literature. (medlineplus.gov)
  • Pallister-Killian mosaic syndrome is usually caused by the presence of an abnormal extra chromosome called an isochromosome 12p or i(12p). (medlineplus.gov)
  • In people with Pallister-Killian mosaic syndrome, cells have the two usual copies of chromosome 12, but some cells also have the isochromosome 12p. (medlineplus.gov)
  • Although Pallister-Killian mosaic syndrome is usually caused by the presence of an isochromosome 12p, other, more complex chromosomal changes involving chromosome 12 are responsible for the disorder in rare cases. (medlineplus.gov)
  • Pallister-Killian mosaic syndrome is not inherited. (medlineplus.gov)
  • Mosaic Down syndrome, or mosaicism, is a rare form of Down syndrome . (healthline.com)
  • People with mosaic Down syndrome have a mixture of cells. (healthline.com)
  • Mosaic Down syndrome occurs in about 2 percent of all Down syndrome cases. (healthline.com)
  • People with mosaic Down syndrome often, but not always, have fewer symptoms of Down syndrome because some cells are normal. (healthline.com)
  • These symptoms are also common in people with mosaic Down syndrome. (healthline.com)
  • For example, people with mosaic Down syndrome typically have a higher IQ than those with other forms of Down syndrome. (healthline.com)
  • Mosaic Down syndrome is typically described through a percentage. (healthline.com)
  • There's no treatment for mosaic Down syndrome. (healthline.com)
  • An example of mosaicism is mosaic Down syndrome. (stlouischildrens.org)
  • Mosaicism or mosaic Down syndrome is diagnosed when there is a mixture of two types of cells. (chkd.org)
  • Babies born with mosaic Down syndrome can have the same features and health problems as babies born with trisomy 21 or translocation Down syndrome. (chkd.org)
  • There are ongoing studies to find out if there are any differences in the health of people with mosaic Down syndrome, depending on how the mosaicism occurred. (chkd.org)
  • Mosaic Down syndrome cases can vary greatly. (chkd.org)
  • What is the chance of having a second child with mosaic Down syndrome? (chkd.org)
  • Mosaic Turner syndrome is one example of chromosomal mosaicism. (nih.gov)
  • Turner's syndrome is a disorder of female patients that is typically associated with the absence of one sex chromosome (45,X), although structural abnormality of one sex chromosome or mosaicism may also be responsible. (bmj.com)
  • This condition is called mosaic Turner syndrome or 45,X mosaicism . (clevelandclinic.org)
  • The usual way in which mosaic Down syndrome is discovered is through genetic testing of the baby's blood. (imdsa.org)
  • How Does Mosaicism Happen in Down Syndrome? (imdsa.org)
  • One report published in 1991 on mental development in Down syndrome mosaicism compared 30 children with mosaic Down syndrome with 30 children with typical Down syndrome. (imdsa.org)
  • However, some children with typical Down syndrome did score higher on the IQ tests than some of the children with mosaic Down syndrome. (imdsa.org)
  • When 28 of these children with mosaicism were matched up with 28 children with typical Down syndrome for age and gender, the children with mosaicism reached certain motor milestones earlier than children with typical DS, such as crawling and walking alone. (imdsa.org)
  • 2. Mental Development in Down Syndrome Mosaicism. (imdsa.org)
  • The rest of 5% of Down syndrome cases are because of conditions called Mosaicism Down Syndrome and Robertsonian translocation. (differencebetween.net)
  • Some women with Turner syndrome have a chromosomal change in only some of their cells, which is known as mosaicism. (nih.gov)
  • Mosaic Turner syndrome is also not inherited. (nih.gov)
  • Regardless of whether this patient has clinical signs of fragile X syndrome, he illustrates that there can be gross tissue-specific differences in molecular subpopulations in mosaic individuals. (docme.ru)
  • Mosaicism is the least common form of Down syndrome and accounts for only about 1% of all cases of Down syndrome. (ndss.org)
  • Research has indicated that individuals with mosaic Down syndrome may have fewer characteristics of Down syndrome than those with other types of Down syndrome. (ndss.org)
  • Maternal age is the only factor that has been linked to an increased chance of having a baby with Down syndrome resulting from nondisjunction or mosaicism. (ndss.org)
  • Corneal opacities--a diagnostic feature of the trisomy 8 mosaic syndrome. (bmj.com)
  • Mosaic trisomy 8, also known as Warkany syndrome, has a well-characterized constellation of phenotypic findings. (elsevier.com)
  • [3] Anaphase lagging is the most common way by which mosaicism arises in the preimplantation embryo. (wikipedia.org)
  • The trouble with mosaicism is that there is no sure way to detect it before implanting an embryo into the uterus. (newscientist.com)
  • High rates of mosaicism were seen in the first three CRISPR human embryo studies. (newscientist.com)
  • The fraction of cells having each genotype is quite variable, reflecting how early during embryo development the mosaicism originated. (messybeast.com)
  • In mosaics, the genetically different cell types all arise from a single embryo, whereas chimeras originate from fusing more than one embryo. (messybeast.com)
  • Embryo mosaicism (the combination of normal and abnormal cells within an embryo) leads to inaccuracies in preimplantation genetic testing. (stanford.edu)
  • Good morning, I just received my PGS results and have 1 mosaic embryo. (ivf-infertility.com)
  • Any advise for the mosaic embryo would be greatly appreciated. (ivf-infertility.com)
  • The data are very sparse, but it seems the chance of live birth with the transfer of a mosaic embryo is perhaps in the 10-30% range. (ivf-infertility.com)
  • Genetic mosaics may often be confused with chimerism , in which two or more genotypes arise in one individual similarly to mosaicism. (wikipedia.org)
  • Mosaicism Versus Chimerism. (whsmith.co.uk)
  • Abuelo DN, Byers PH (1991) Germline mosaicism in progressive deforming osteogenesis imperfecta (abstract). (springer.com)
  • Germline Mosaicism. (powershow.com)
  • We performed an analysis of germline DNA derived from blood or buccal specimens from 24,849 individuals in 46 cancer-related studies using a modified mosaic alteration detection algorithm on renormalized B-allele frequencies and log2 relative probe intensity ratios from commercially available Illumina SNP arrays. (ashg.org)
  • This study demonstrates that next-generation sequencing (NGS) is uniquely well suited for parental testing, in particular due to its ability to detect clinically relevant germline mosaicism. (medworm.com)
  • In this case, the baby would have a 75 percent level of mosaicism. (healthline.com)
  • 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. (stlouischildrens.org)
  • However, this blood test can only determine the level of mosaicism in the blood cell line. (imdsa.org)
  • This type of mosaicism is most often associated with normal pregnancy outcome. (wikipedia.org)
  • This type of mosaicism is described in normal pregnancies and is sometimes associated with delayed growth of the fetus. (wikipedia.org)
  • This type of mosaicism is more commonly associated with delayed growth in the fetus. (wikipedia.org)
  • However, I would like to limit my speculation of the type of mosaicism in the founding pair based on what we know of human biological development and scriptural considerations. (reasons.org)
  • Although this speculative model is set forth with these two factors in mind, limiting the type of mosaicism may also help set parameters for computationally modeling human population diversity based on an historical sole-progenitor pair at its base. (reasons.org)
  • A special type of mosaicism is gonadal mosaicism . (t-vox.org)
  • 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 single fertilized egg. (wikipedia.org)
  • Hall JG (1988) Somatic mosaicism: observations related to clinical genetics. (springer.com)
  • The Department of Human Genetics at the Medical College of Virginia has had an ongoing study project of children with mosaic DS. (imdsa.org)
  • Since the founding of Drosophila genetics by Thomas Hunt Morgan and his colleagues over 100 years ago, the experimental induction of mosaicism has featured prominently in its recognition as an unsurpassed genetic model organism. (genetics.org)
  • In medicine (genetics), a mosaic or mosaicism denotes the presence of two populations of cells with different genotypes in one patient, where usually one of the two is affected by a genetic disorder. (t-vox.org)
  • Genetic mosaicism can result from many different mechanisms including chromosome non-disjunction , anaphase lag and endoreplication . (wikipedia.org)
  • Widespread genetic mosaicism may influence diseases that derive from a few genetically altered cells, such as cancer. (pnas.org)
  • 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. (pnas.org)
  • New technologies promise the ability to measure genetic mosaicism by sampling a large number of cellular genomes within an individual. (pnas.org)
  • Cellular imaging demonstrates genetic mosaicism in heterozygous carriers of an X-linked ciliopathy gene. (nih.gov)
  • Here, we discuss how genetic mosaicism in Drosophila became an invaluable research tool that revolutionized developmental biology. (genetics.org)
  • [9] Generally this leads to a milder phenotype than in non-mosaic patients with the same disorder. (wikipedia.org)
  • Our study demonstrates the importance of a general screening for NF1 deletions, regardless of a special phenotype, because of a high estimated number of otherwise undetected mosaic NF1 microdeletions. (sigmaaldrich.com)
  • Therefore, most cases of spontaneous Rh phenotype splitting appear to be due to hematopoietic mosaicism based on LOH on chromosome 1. (bloodjournal.org)
  • The phenotype of this fetus, which appears to be the first reported case involving mosaic trisomy 8 for the entire q arm of the chromosome, is described and compared to previously reported cases involving partial trisomy 8q. (elsevier.com)
  • Mosaicism is a condition in which cells within the same person have a different genetic makeup. (medlineplus.gov)
  • Somatic mosaicism occurs when the somatic cells of the body are of more than one genotype. (wikipedia.org)
  • [10] In revertant mosaicism, the healthy tissue formed by mitotic recombination can outcompete the original, surrounding mutant cells in tissues like blood and epithelia that regenerate often. (wikipedia.org)
  • True mosaicism should not be mistaken for the phenomenon of X‑inactivation , where all cells in an organism have the same genotype, but a different copy of the X chromosome is expressed in different cells. (wikipedia.org)
  • Detectable clonal mosaic events plotted by proportion of abnormal cells (p) and Log R Ratio (LRR) for 681 events in 517 individuals. (nih.gov)
  • Mosaic trisomy 9 is a rare chromosomal disorder in which the entire 9th chromosome appears three times (trisomy) rather than twice in some cells of the body. (rarediseases.org)
  • The term "mosaic" indicates that some cells contain the extra chromosome 9, while others have the typical chromosomal pair. (rarediseases.org)
  • Mosaic Trisomy 9 may be caused by errors during the division of a parent's egg or sperm or during the division of body tissue cells (somatic cells) early in the development of the fetus. (rarediseases.org)
  • As noted above, mosaic trisomy 9 is characterized by an extra 9th chromosome (trisomy 9) in some cells of the body (mosaicism). (rarediseases.org)
  • Confined placental mosaicism (CPM) represents a discrepancy between the chromosomal makeup of the cells in the placenta and the cells in the fetus. (wikipedia.org)
  • I am not the first to posit that creating the founding couple with a mosaic of gametes (or gametogonia , cells that give rise to sperm and eggs/oocytes), each with a unique genotype, is one way to provide sufficient diversity in the extant human population. (reasons.org)
  • In patients with mosaicism, the proportion of cells with the deletion was 91%-100% in peripheral leukocytes but was much lower (51%-80%) in buccal smears or peripheral skin fibroblasts. (sigmaaldrich.com)
  • Therefore, the analysis of other tissues than blood is recommended, to exclude mosaicism with normal cells in patients with NF1 microdeletions. (sigmaaldrich.com)
  • While mosaics and chimeras both have more than one genetically-distinct population of cells and the outward appearance may be identical, there is a clear distinction between mosaicism and chimaerism. (messybeast.com)
  • Chromosomal mosaicism occurs from an error in cell division in cells other than eggs and sperm. (nih.gov)
  • Here, we present mathematical modelling suggesting that small changes in the type of interaction that cells have with their local cellular environment can lead to very different outcomes for the composition of mosaics. (royalsocietypublishing.org)
  • 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. (royalsocietypublishing.org)
  • The baby, it turned out, carried a mixture of genetically distinct cells, a condition known as mosaicism. (nytimes.com)
  • Nature creates its mosaics from cells instead of tiles, in a rainbow of different genetic profiles. (nytimes.com)
  • If some of the cells have trisomy 21 and some don't, then the diagnosis of mosaicism is made. (imdsa.org)
  • While mosaicism can occur in just one cell line (some blood cells have trisomy 21 and the rest don't), it can also occur across cell lines (skin cells may have trisomy 21 while other cell lines don't). (imdsa.org)
  • When mosaicism is suspected but not confirmed through the blood test, other cell types may be tested: skin and bone marrow are most commonly the next cells checked. (imdsa.org)
  • For example, instead of having all 46XX cells, a mosaic may have a combination of 46XX and 45X cells. (inciid.org)
  • The purpose of this study was to establish that retinal pigment epithelial (RPE) cells take up indocyanine green (ICG) dye following systemic injection and that adaptive optics enhanced indocyanine green ophthalmoscopy (AO-ICG) enables direct visualization of the RPE mosaic in the living human eye. (arvojournals.org)
  • Adaptive optics-enhanced imaging of ICG dye provides a novel way to visualize and assess the RPE mosaic in the living human eye alongside images of the overlying photoreceptors and other cells. (arvojournals.org)
  • This situation is called mosaicism because the child is a mosaic of normal and edited cells. (gizmodo.com.au)
  • Keep in mind, the mosaic result suggests no more than half of the sampled cells were aneuploid. (ivf-infertility.com)
  • When an organism has a mixture of edited and unedited cells, it is called a "mosaic. (phys.org)
  • I saw an interesting example of mosaicism in a medical journal. (slashdot.org)
  • With the advent of genome-wide association studies, it is possible to evaluate the relative intensities of the genotype signals to detect large structural mosaicism in human populations. (ashg.org)
  • The most common form of mosaicism found through prenatal diagnosis involves trisomies . (wikipedia.org)
  • A single individual can have more than one form of mosaicism. (messybeast.com)
  • Chromosomal mosaicism in chorionic villi (CV) is detected in ~1-2% of cases. (nih.gov)
  • Incidence and outcome of chromosomal mosaicism found at the time of chorionic villus sampling. (thefreedictionary.com)
  • The pregnancy loss rate in pregnancies with confined placental mosaicism, diagnosed by chorionic villus sampling, is higher than among pregnancies without placental mosaicism. (wikipedia.org)
  • An increase in the signal in chromosome 2 shows a ~20% mosaic trisomy in this chorionic villi (CVS) sample. (thermofisher.com)
  • Different types of mosaicism exist, such as gonadal mosaicism (restricted to the gametes ) or somatic mosaicism. (wikipedia.org)
  • Genetic testing can diagnose mosaicism. (medlineplus.gov)
  • In the latter case, it may be more difficult to diagnose mosaicism. (imdsa.org)
  • Somatic overgrowth syndromes (SOS) comprise a group of disorders that are characterised by excessive tissue growth caused by mosaic variants in genes involved in regulating cell growth/cell cycle. (bmj.com)
  • 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. (nature.com)
  • 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). (nature.com)
  • Detection of Large Clonal Mosaic Events in Existing Genome-wide Association Study Data. (ashg.org)
  • A diagnosis of mosaicism may cause confusion and uncertainty. (medlineplus.gov)
  • Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based and data derived for chromosome mosaicism and pseudomosaicism studies. (freethesaurus.com)
  • 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. (freethesaurus.com)
  • Robust and streamlined analysis of prenatal and miscarriage samples for the reliable detection of chromosomal abnormalities, submicroscopic aberrations, loss/absence of heterozygosity (LOH/AOH), uniparental disomy (UPD), and mosaics. (thermofisher.com)
  • We determined the likelihood that any mosaic abnormalities identified through CV samples are confirmed in the fetus. (nih.gov)
  • Other sex chromosome abnormalities are also possible in females with X chromosome mosaicism. (nih.gov)
  • Revertant somatic mosaicism is a rare recombination event in which there is a spontaneous correction of a mutant, pathogenic allele . (wikipedia.org)
  • In all dystrophinopathy phenotypes, males have a hemizygous (or rarely mosaic) pathogenic DMD variant. (nature.com)
  • Osteogenesis imperfecta (OI), a dominantly inherited connective tissue disorder, is usually caused by defects in collagen I. There is growing evidence for parental mosaicism that results in affected children born to unaffected parents. (springer.com)
  • As chimaera experiments in particular have been so successful in the exploration of mosaics, we discuss them in detail here, with particular reference to their relevance for the growth and maintenance of organ parenchyma (i.e. the tissue that is essential to organ function). (royalsocietypublishing.org)
  • Tissue limited mosaicism in a patient with tetrasomy 9p. (semanticscholar.org)
  • The brain is a genomic mosaic. (frontiersin.org)
  • Genomic Mosaicism of Autosomes. (whsmith.co.uk)
  • 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. (sigmaaldrich.com)
  • An unadjusted analysis of age indicates the mosaicism increases with increasing age (p=5.3e-4), providing further support for age-related genomic senescence. (ashg.org)
  • Somatic mosaicism may be responsible for a larger proportion of genomic variability within humans than previously thought. (the-scientist.com)
  • The case proved useful for testing the sensitivity of array comparative genomic hybridization (array-CGH) with respect to segmental trisomy in the presence of chromosomal mosaicism. (elsevier.com)
  • Many of the mosaic anomalies are characteristic of those found in hematological cancers and identify common deleted regions with genes previously associated with these cancers. (nature.com)
  • for instance, women are functionally mosaic due to the X chromosome genes expressed. (thefreedictionary.com)
  • Eight cases of previously unrevealed mosaicism were detected by NGS across eight different genes. (medworm.com)
  • normal, abnormal (non-mosaic), mosaic and chaotic (uncontrolled division). (springer.com)
  • The very large presented sample set and consistency in cytogenetic methodology, especially the analysis of both placental layers performed on all CV samples will enable genetic counselors to determine the risk of fetal involvement and the clinical relevance of an identified mosaic condition. (nih.gov)
  • Now Mitalipov's team has apparently managed to reduce the rate of mosaicism by injecting the CRISPR machinery at an earlier stage, at the same time as the eggs were fertilised with sperm. (newscientist.com)
  • This report illustrates the clinical utility of performing targeted NGS analysis on sperm from males with a mosaic condition in order to provide personalized transmission risk and offer evidence-based counseling on reproductive safety. (soton.ac.uk)
  • This proportion of mosaic deletions is much higher than previously anticipated. (sigmaaldrich.com)
  • None of the eight patients with mosaic deletions exhibited the mental retardation and facial dysmorphism usually associated with NF1 microdeletions. (sigmaaldrich.com)
  • Conspicuously, seven of the eight mosaic deletions are of type II, whereas only one was a classic type I deletion. (sigmaaldrich.com)
  • Non-mosaic tetrasomy 9p in a liveborn infant with multiple congenital anomalies: case report and comparison with trisomy 9p. (semanticscholar.org)
  • An infant with trisomy 8 mosaicism had bilateral corneal opacities and multiple systemic anomalies. (bmj.com)
  • Combined with independent data from our previous study of 57,835 individuals, analyses indicate mosaicism is associated with male sex with 353 of 37,287 males (0.95%) and 191 of 33,223 females (0.57%) having mosaic events (p=0.001). (ashg.org)
  • Incidence and significance of chromosome mosaicism involving an structural abnormality diagnosed prenatally through amniocentesis: A collaborative study. (freethesaurus.com)
  • In the more common mosaics, different genotypes arise from a single fertilized egg cell, due to mitotic errors at first or later cleavages. (wikipedia.org)
  • High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene. (sigmaaldrich.com)
  • Mosaicism is also a problem for the hundreds of teams creating gene-edited animals, so many groups are working on ways to reduce it. (newscientist.com)
  • One of the normal parents was found to be mosaic for the gene change. (edu.au)
  • In all five carriers examined, qualitative and quantitative analyses by AO SLO imaging revealed a mosaic pattern of cone disruption, even in the absence of visual symptoms, normal visual acuity and normal macular thickness, on optical coherence tomography and mildly subnormal full-field cone electroretinographic findings. (nih.gov)
  • Trisomy 9 mosaicism in two girls with multiple congenital malformations and mental retardation. (thefreedictionary.com)
  • These studies show that the percentage of mosaicism doesn't accurately predict outcome. (chkd.org)
  • MedlinePlus offers an encyclopedia article about chromosomal mosaicism . (nih.gov)
  • A better understanding of exactly how mosaic patterns arise would provide an important contribution to the problems outlined above. (royalsocietypublishing.org)
  • For example, various mosaic patterns visualize the embryonic development of human skin and X-linked skin disorders explain why women live longer than men, and so on. (whsmith.co.uk)
  • Mosaic tissues are composed of two or more genetically distinct cell types. (royalsocietypublishing.org)
  • Mosaicism is defined as the presence of two or more genetically distinct cellular populations in an individual who developed from a single zygote. (ashg.org)
  • The unexpected recurrence of the disorder in the second child raised the suspicion of a recessive trait or, rather, of parental mosaicism. (springer.com)
  • Consistent with somatic mosaicism, parental samples had lower ratios of mutant versus wild-type allele compared with the fully heterozygote offspring. (sigmaaldrich.com)
  • 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. (sigmaaldrich.com)
  • Immunohistochemistry to detect mutant IDH1 R132H protein suggested intraneoplastic and somatic mosaicism. (cun.es)
  • Average height is rarely achieved, except in girls with mosaicism (the presence in an individual of 2 or more chromosomally different cell lines, both originating from the same zygote) or those whose parents are of above average height. (aappublications.org)
  • The incorporation of NGS to PGS has improved the mosaicism detection compared with aCGH. (blackcatbar.com)
  • The detection of mosaicism by NGS was compared to its detection by Sanger sequencing. (medworm.com)
  • Some infants and children with mosaic trisomy 9 have feeding difficulties after birth and may require a feeding tube. (rarediseases.org)