Document Detail


Down syndrome due to de novo Robertsonian translocation t(14q;21q): DNA polymorphism analysis suggests that the origin of the extra 21q is maternal.
MedLine Citation:
PMID:  1831959     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Down syndrome is rarely due to a de novo Robertsonian translocation t(14q;21q). DNA polymorphisms in eight families with Down syndrome due to de novo t(14q;21q) demonstrated maternal origin of the extra chromosome 21q in all cases. In seven nonmosaic cases the DNA markers showed crossing-over between two maternal chromosomes 21, and in one mosaic case no crossing-over was observed (this case was probably due to an early postzygotic nondisjunction). In the majority of cases (five of six informative families) the proximal marker D21S120 was reduced to homozygosity in the offspring with trisomy 21. The data can be best explained by chromatid translocation in meiosis I and by normal crossover and segregation in meiosis I and meiosis II.
Authors:
M B Petersen; P A Adelsberger; A A Schinzel; F Binkert; G K Hinkel; S E Antonarakis
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of human genetics     Volume:  49     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  1991 Sep 
Date Detail:
Created Date:  1991-10-03     Completed Date:  1991-10-03     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  529-36     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD.
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MeSH Terms
Descriptor/Qualifier:
Adult
Chromosomes, Human, Pair 14*
Chromosomes, Human, Pair 21*
Crossing Over, Genetic / genetics
Down Syndrome / genetics*
Female
Humans
Male
Maternal Age
Meiosis / genetics
Polymorphism, Genetic / genetics
Translocation, Genetic / genetics*
Grant Support
ID/Acronym/Agency:
GM41015/GM/NIGMS NIH HHS
Comments/Corrections

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