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Prenatal diagnosis of complete paternal uniparental isodisomy for chromosome 3: a case report

BACKGROUND: Uniparental disomy (UPD) is defined as an inheritance of two chromosomes from only one of the parents with no representative copy from the other. Paternal-origin UPD of chromosome 3 is a very rare condition, with only five cases of paternal UPD(3) reported. CASE PRESENTATION: Here, we re...

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Detalles Bibliográficos
Autores principales: Bu, Xiufen, Li, Xu, Zhou, Shihao, Shi, Liangcheng, Jiang, Xuanyu, Peng, Can, Li, Hongyu, He, Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8572431/
https://www.ncbi.nlm.nih.gov/pubmed/34742342
http://dx.doi.org/10.1186/s13039-021-00569-8