ArticleAmerican journal of human genetics1995
Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell selection.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
21 citing papers in PubMed.
- Preimplantation genetic diagnosis for couples at high risk of Down syndrome pregnancy owing to parental translocation or mosaicism.Journal of medical genetics · 1999Trial
- Characteristics and mechanisms of mosaicism in prenatal diagnosis cases by application of SNP array.Molecular cytogenetics · 2023Article
- Review
- Growth data and tumour risk of 32 Chinese children and adolescents with 45,X/46,XY mosaicism.BMC pediatrics · 2019Article
- Review
- Mosaic trisomy 8 detected by fibroblasts cultured of skin.Colombia medica (Cali, Colombia) · 2016Article
- Chromosome transplantation as a novel approach for correcting complex genomic disorders.Oncotarget · 2015Article
- Constitutional trisomy 8 mosaicism as a model for epigenetic studies of aneuploidy.Epigenetics & chromatin · 2013Article
- The genomically mosaic brain: aneuploidy and more in neural diversity and disease.Seminars in cell & developmental biology · 2013Review
- Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.Human molecular genetics · 2010Article
- Incidence of non-age-dependent chromosomal abnormalities: a population-based study on 88965 amniocenteses.European journal of human genetics : EJHG · 2009Article
- Chromosomal mosaicism in mouse two-cell embryos after paternal exposure to acrylamide.Toxicological sciences : an official journal of the Society of Toxicology · 2009Article
- In vivo reversion to normal of inherited mutations in humans.Journal of medical genetics · 2003Review
- The origin of abnormalities in recurrent aneuploidy/polyploidy.American journal of human genetics · 2001Article
- Article
- Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction.American journal of human genetics · 1997Article
- Karyotype 69,XXX/47,XX,+15 in a 2 1/2 year old child.Journal of medical genetics · 1997Article
- Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency.American journal of human genetics · 1996Article
- Molecular studies of the aetiology of trisomy 8 in spontaneous abortions and the liveborn population.Human genetics · 1996Article
- Lack of X inactivation associated with maternal X isodisomy: evidence for a counting mechanism prior to X inactivation during human embryogenesis.American journal of human genetics · 1996Article
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Studies of uniparental disomy and origin of nonmosaic trisomies indicate that both gain and loss of a chromosome can occur after fertilization. It is therefore of interest to determine both the relative frequency with which gain or loss can contribute to chromosomal mosaicism and whether these frequencies are influenced by selective factors. Thirty-two mosaic cases were examined with molecular markers, to try to determine which was the primary and which was the secondary cell line: 16 cases of disomy/trisomy mosaicism (5 trisomy 8, 2 trisomy 13, 1 trisomy 18, 4 trisomy 21, and 4 involving the X chromosome), 14 cases of 45,X/46,XX, and 2 cases of 45,X/47,XXX. Of the 14 cases of mosaic 45,X/46,XX, chromosome loss from a normal disomic fertilization predominated, supporting the hypothesis that 45,X might be compatible with survival only when the 45,X cell line arises relatively late in development. Most cases of disomy/trisomy mosaicism involving chromosomes 13, 18, 21, and X were also frequently associated with somatic loss of one (or more) chromosome, in these cases from a trisomic fertilization. By contrast, four of the five trisomy 8 cases were consistent with a somatic gain of a chromosome 8 during development from a normal zygote. It is possible that survival of trisomy 8 is also much more likely when the aneuploid cell line arises relatively late in development.
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