Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes.

Rearrangements of the acrocentric chromosomes (Robertsonian translocations and isochromosomes) are associated with an increased risk of aneuploidy. Given this, and the large number of reported cases of uniparental disomy (UPD) associated with an acrocentric rearrangement, carriers are presumed to be...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Berend, S A, Horwitz, J, McCaskill, C, Shaffer, L G
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2000
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1378034/
https://ncbi.nlm.nih.gov/pubmed/10775524
Tagiau: Ychwanegu Tag
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