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Uniparental disomy in Robertsonian translocations: strategies for uniparental disomy testing

Robertsonian translocations (ROBs) are whole arm rearrangements involving the acrocentric chromosomes 13-15 and 21-22 and carriers are at increased risk for aneuploidy and thus uniparental disomy (UPD). Chromosomes 14 and 15 are imprinted with expression of genes dependent on the parental origin of...

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Bibliografiske detaljer
Udgivet i:Transl Pediatr
Hovedforfatter: Yip, Moh-Ying
Format: Artigo
Sprog:Inglês
Udgivet: AME Publishing Company 2014
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4729106/
https://ncbi.nlm.nih.gov/pubmed/26835328
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2224-4336.2014.03.03
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