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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Detalles Bibliográficos
Autores principales: Liu, WeiQiang, Zhang, HuiMin, Wang, Jian, Yu, GuoJiu, Qiu, WenJun, Li, ZhiHua, Chen, Min, Choy, Kwong Wai, Sun, XiaoFang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4632482/
https://www.ncbi.nlm.nih.gov/pubmed/26539248
http://dx.doi.org/10.1186/s13039-015-0190-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4632482/
https://www.ncbi.nlm.nih.gov/pubmed/26539248
http://dx.doi.org/10.1186/s13039-015-0190-z

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