Prenatal diagnosis of complete maternal uniparental isodisomy of chromosome 4 in a fetus without congenital abnormality or inherited disease-associated variations

BACKGROUND: The prenatal diagnosis of subjects with complete uniparental isodisomy of chromosome 4 (iUPD4) has rarely been reported and poses a great challenge for genetic counseling. In this study, a prenatal case with a high (1 in 58) risk of Down syndrome was diagnosed with iUPD4 by combined chro...

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Bibliografiske detaljer
Udgivet i:Mol Cytogenet
Main Authors: Liu, WeiQiang, Zhang, HuiMin, Wang, Jian, Yu, GuoJiu, Qiu, WenJun, Li, ZhiHua, Chen, Min, Choy, Kwong Wai, Sun, XiaoFang
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2015
Fag:
Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4632482/
https://ncbi.nlm.nih.gov/pubmed/26539248
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0190-z
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