Prenatal diagnosis and genetic counseling of a uniparental isodisomy of chromosome 8 with no phenotypic abnormalities

Prenatal diagnosis and genetic counseling of a uniparental isodisomy of chromosome 8 with no phenotypic abnormalities

Background: Uniparental disomy (UPD) refers to an epigenomic abnormality in which both copies of, or a part of, a homologous pair of chromosomes are inherited from one parent. UPD arises via a number of mechanisms, including monosomic and trisomic rescue (in embryonic development), incomplete segreg...

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Bibliographic Details
Main Authors:	Qi, L. (Author), Tian, Y. (Author), Wang, B. (Author), Yu, C. (Author)
Format:	Article
Language:	English
Published:	BioMed Central Ltd 2022
Subjects:	Chromosomal microarray analysis Fluorescence in situ hybridization Noninvasive prenatal testing Uniparental disomy Whole-exome sequencing
Online Access:	View Fulltext in Publisher

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