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[Prenatal diagnosis and genetic counseling in 19 cases with 22q11.2 microduplications].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2021

Cui Yu, Xiao Jianping, Zhao Li, Yang Lan, Tang Ye, Tao Hehua, Zhang Heng

Abstract excerpt

OBJECTIVE: Patients with 22q11.2 microduplications have highly variable clinical phenotypes. The clinical manifestations and prognosis of 19 fetuses carrying 22q11.2 microduplications were analyzed. METHODS: The fetuses were analyzed by single nucleotide polymorphism array (SNP array), which was followed by parental validation. Pregnancy outcome and clinical features of the newborns were analyzed in order to...

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Identifiers

PMID: 34839502
DOI: 10.3760/cma.j.cn511374-20200921-00679

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