ArticleAmerican journal of human genetics1994
Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis.
Article in American journal of human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 84 citations in OpenAlex.
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- Performing Single-Cell Clonal Analysis in the Mouse Brain Using Mosaic Analysis with Double Markers (MADM).Methods in molecular biology (Clifton, N.J.) · 2022Article
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- Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Review
- Verb production by individuals with Down syndrome during narration.Research in developmental disabilities · 2019Article
- Somatic mosaicism and neurodevelopmental disease.Nature neuroscience · 2018Review
- Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability.Journal of autism and developmental disorders · 2018Article
- Motor and Cognitive Developmental Profiles in Children With Down Syndrome.Annals of rehabilitation medicine · 2017Article
- Receptive vocabulary analysis in Down syndrome.Research in developmental disabilities · 2016Article
- Somatic mutation, genomic variation, and neurological disease.Science (New York, N.Y.) · 2013Review
- Constitutional and acquired autosomal aneuploidy.Clinics in laboratory medicine · 2011Review
- Germinal and Somatic Trisomy 21 Mosaicism: How Common is it, What are the Implications for Individual Carriers and How Does it Come About?Current genomics · 2010Article
- The phenotype of persons having mosaicism for trisomy 21/Down syndrome reflects the percentage of trisomic cells present in different tissues.American journal of medical genetics. Part A · 2009Article
- Klinefelter and trisomy X syndromes in patients with Prader-Willi syndrome and uniparental maternal disomy of chromosome 15--a coincidence?American journal of medical genetics · 1997Article
- Maternal uniparental disomy 7 in Silver-Russell syndrome.Journal of medical genetics · 1997Article
- Molecular studies of the aetiology of trisomy 8 in spontaneous abortions and the liveborn population.Human genetics · 1996Article
Corrections and comments
- Erratum issued
Authors and funding
10 authors.
Funding
Abstract
In order to investigate the mechanism(s) underlying mosaicism for trisomy 21, we genotyped 17 families with mosaic trisomy 21 probands, using 28 PCR-detectable DNA polymorphic markers that map in the pericentromeric region and long arm of chromosome 21. The percentage of cells with trisomy 21 in the probands' blood lymphocytes was 6%-94%. There were two classes of autoradiographic results: In class I, a "third allele" of lower intensity was detected in the proband's DNA for at least two chromosome 21 markers. The interpretation of this result was that the proband had inherited three chromosomes 21 after meiotic nondisjunction (NDJ) (trisomy 21 zygote) and subsequently lost one because of mitotic (somatic) error, the lost chromosome 21 being that with the lowest-intensity polymorphic allele. The parental origin and the meiotic stage of NDJ could also be determined. In class II, a "third allele" was never detected. In these cases, the mosaicism probably occurred either by a postzygotic, mitotic error in a normal zygote that followed a normal meiosis (class IIA mechanism); by premeiotic, mitotic NDJ yielding an aneusomic zygote after meiosis, and subsequent mitotic loss (class IIB mechanism); or by a meiosis II error with lack of crossover in the preceding meiosis I, followed by mitotic loss after fertilization (class IIC mechanism). Among class II mechanisms, the most likely is mechanism IIA, while IIC is the least likely. There were 10 cases of class I and 7 cases of class II results.(ABSTRACT TRUNCATED AT 250 WORDS)
Indexed as
Identifiers
8116616PMC1918141W1853603073What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.