Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations.

Down syndrome is rarely due to a de novo duplication of chromosome 21 [dup(21q)]. To investigate the origin of the dup(21q) and the nature of this chromosome, we used DNA polymorphisms in 10 families with Down syndrome due to de novo dup(21q). The origin of the extra chromosome 21q was maternal in s...

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Detalhes bibliográficos
Main Authors: Antonarakis, S E, Adelsberger, P A, Petersen, M B, Binkert, F, Schinzel, A A
Formato: Artigo
Idioma:Inglês
Publicado em: 1990
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683910/
https://ncbi.nlm.nih.gov/pubmed/1978562
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