ArticleAmerican journal of human genetics1992
DNA polymorphism analysis in families with recurrence of free trisomy 21.
Article in American journal of human genetics, 1992. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
What it found
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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
13 citing papers in PubMed, 62 citations in OpenAlex.
- Preimplantation genetic diagnosis for couples at high risk of Down syndrome pregnancy owing to parental translocation or mosaicism.Journal of medical genetics · 1999Trial
- How common is germinal mosaicism that leads to premeiotic aneuploidy in the female?Journal of assisted reproduction and genetics · 2019Review
- Germline mosaicism does not explain the maternal age effect on trisomy.American journal of medical genetics. Part A · 2013Article
- Germ-line transmission of trisomy 21: Data from 80 families suggest an implication of grandmaternal age and a high frequency of female-specific trisomy rescue.Molecular cytogenetics · 2010Article
- On the paternal origin of trisomy 21 Down syndrome.Molecular cytogenetics · 2010Article
- Preimplantation genetic diagnosis for Down syndrome pregnancy.Journal of Zhejiang University. Science. B · 2007Article
- Primary prevention of Down's syndrome.International journal of medical sciences · 2005Article
- Trisomy recurrence: a reconsideration based on North American data.American journal of human genetics · 2004Article
- Off to a good start: the influence of pre- and periconceptional exposures, parental fertility, and nutrition on children's health.Environmental health perspectives · 2004Review
- The origin of abnormalities in recurrent aneuploidy/polyploidy.American journal of human genetics · 2001Article
- Recurrent Trisomies: Chance or Inherited Predisposition?Journal of genetic counseling · 1999Article
- Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis.American journal of human genetics · 1994Article
- Recurrent Down's syndrome due to maternal ovarian trisomy 21 mosaicism.Archives of gynecology and obstetrics · 1994Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
Abstract
We used DNA polymorphic markers on the long arm of human chromosome 21 in order to determine the parental and meiotic origin of the extra chromosome 21 in families with recurrent free trisomy 21. A total of 22 families were studied, 13 in which the individuals with trisomy 21 were siblings (category 1), four families in which the individuals with trisomy 21 were second-degree relatives (category 2), and five families in which the individuals with trisomy 21 were third-degree relatives, that is, their parents were siblings (category 3). In five category 1 families, parental mosaicism was detected, while in the remaining eight families, the origin of nondisjunction was maternal. In two of the four families of category 2 the nondisjunctions originated in individuals who were related. In only one of five category 3 families, the nondisjunctions originated in related individuals. These results suggest that parental mosaicism is an important etiologic factor in recurrent free trisomy 21 (5 of 22 families) and that chance alone can explain the recurrent trisomy 21 in many of the remaining families (14 of 22 families). However, in a small number of families (3 of 22), a familial predisposing factor or undetected mosaicism cannot be excluded.
Indexed as
Identifiers
1415248PMC1682858W1959228706What 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.