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

Abstract 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), incomplet...

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Главные авторы:	Chunjiao Yu, Ying Tian, Liang Qi, Bo Wang
Формат:	Artigo
Язык:	Inglês
Опубликовано:	BMC 2022-04-01
Серии:	Molecular Cytogenetics
Предметы:	Uniparental disomy Noninvasive prenatal testing Chromosomal microarray analysis Fluorescence in situ hybridization Whole-exome sequencing
Online-ссылка:	https://doi.org/10.1186/s13039-022-00594-1
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