Somatic Mosaicism
Second site mutation in the Wiskott Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings
... revertant mosaicism due to back mutations or second-site mutations has been reported recently in sev- eral genetic diseases: tyrosinemia type 1 (6), Bloom syn- drome (7), epidermolysis bullosa (9, 16), Fanconi ...
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De novo mutation and somatic mosaicism of gene mutation in type 2A, 2B and 2M VWD
... [5], somatic mosaicism of the type 2 VWD gene was even more rarely reported [3], despite it had been mentioned in hemophilia B ...which somatic mosai- cism of the VWF gene mutation will be ...
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Double somatic mosaicism in a child with Dravet syndrome
... Double somatic mosaicism, where 2 mosaic variants occur at the same nucleotide, has not been reported in Dravet syn- drome and only rarely recognized in human diseases 3,4 ; re- cently, a single case was ...
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The Malaria-Protective Human Glycophorin Structural Variant DUP4 Shows Somatic Mosaicism and Association with Hemoglobin Levels
... the somatic variant originated in the donor patient given that the HG02554 B-lymphoblas- toid cells from Oxford and the Wellcome Sanger Institute were both from the same batch of cells (passage #4, accord- ing to ...
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PARAMUTATION AND SOMATIC MOSAICISM IN MAIZE
... Diversity in level of R potential within an individual is brought to light by sampling separately the pollen formed in different tassels of a plant or in the several branches [r] ...
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THE RELATION OF GERM LINE MOSAICISM TO SOMATIC MOSAICISM IN DROSOPHILA
... From the frequency of yellow imaginal discs that had lost the y + marker and the frequencies of complete mutant, mosaic, and non-mutant germ lines, we estimated that [r] ...
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Progressive Cribriform and Zosteriform Hyperpigmentation along with Vitiligo
... so somatic mosaicism that develops during embryogenesis appears to be the underlying aetiology, which is leading to proliferation and mi- gration of two mixed populations of melanocytes with different ...
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RASA1 -related capillary malformation-arteriovenous malformation (CM-AVM)
... Somatic mosaicism is defined as the presence of more than one clone of cells with different genotypes, all which are derived from a single ...constitutional mosaicism can be theoretically defined as ...
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Somatic Copy Number Mosaicism Contributes to Genomic Diversity in Mus musculus
... termed somatic mosaicism. Such mosaicism can have phenotypic e ff ects, including genetic diseases that do not appear to have been inherited from either ...disease, somatic mosaicism is ...
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Characteristics of gliomas in patients with somatic IDH mosaicism
... that somatic mosaicism might be another mechanism leading to the develop- ment of multicentric ...whether somatic IDH mosaicism might be responsible for the occurrence of multicentric gliomas ...
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Somatic/gonadal mosaicism for structural autosomal rearrangements: female predominance among carriers of gonadal mosaicism for unbalanced rearrangements
... One hundred and four cases of carriers of N/Rea, along with the data on their chromosome constitution, carrier’s age at the birth of the proband (when relevant and/or specified), proportion of abnormal cell line(s), and ...
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A newborn with very rare von Voss-Cherstvoy syndrome: a case report
... Case presentation: We report a neonate from Indian ethnicity who was diagnosed with von Voss-Cherstvoy syndrome. The neonate had radial ray defect, occipital encephalocele, tetralogy of Fallot, and bilateral agenesis of ...
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Hypomelanosis of Ito with a trisomy 2 mosaicism: a case report
... Case presentation: A 6-month-old Caucasian girl presented with unilateral areas of hypomelanosis distributed on the left half of her body and her father presented with similar mosaic hypopigmented lesions on his upper ...
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DOWN'S SYNDROME: CYTOGENETIC STUDIES IN 150 CASES IN TEHRAN
... Statistical analysis demonstrated significant differences between Iran and the data in Copenhagen, Hungary and Australia for the frequencies of mosaicism and translocation, and in India for translocation. The data ...
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Pigmentary mosaicism: a review of original literature and recommendations for future handling
... In this review, cytogenetic analysis was performed in 66% (241 patients) of patients with extracutaneous mani- festations and by comparison in only 8% (22 patients) of patients without extracutaneous manifestations. ...
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ABNORMAL SEXUAL DEVELOPMENT ASSOCIATED WITH SEX CHROMOSOME MOSAICISM
... Chromosomal mosaicism in human sub jects was first inferred when an individual with Turner's syndrome was found to have a different chromatin pattern in skin cells from biopsy specimens [r] ...
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Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome
... Hearing and ophthalmologic impairment were observed less frequently in our population compared to reports in the literature. Only one patient had bilateral hip dislocation. Compared to the literature, seizures were ...
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SPECIFIC GENETIC EFFECTS OF DNA IN DROSOPHILA MELANOGASTER
... The frequency of mosaicism induced by heterologous DNA is directly proportional to the number of target chromosomes in the treated flies, and the effects are transmitted to subsequ[r] ...
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SEX CHROMOSOME MOSAICISM IN THE MARSUPIAL GENERA ISOODON AND PERAMELES
... In the species described in this paper the male embryo is presumably XY and during the development of the embryo the Y chromosome is lost from the somatic tissue; in the XX[r] ...
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The significance of trisomy 7 mosaicism in noninvasive prenatal screening
... placental mosaicism (CPM) for chromosomes 8, 15, and 16 has been well described and results in a spectrum of fetal outcomes, from no clinical phenotype to fetal growth restriction [5, 10, ...
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