Article
[Clinical phenotype and genetic analysis of a child with 3p26.3p25.3 deletion].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2023
Shi Jiamin, Chen Shangqin, Lu Aihui, Liang Yaqin, Wang Qiu, Lu Chaosheng, Wang Dan
Abstract excerpt
OBJECTIVE: To explore the genetic basis for a child with facial dysmorphism and multiple malformations. METHODS: The child, born at 34+6 weeks' gestation due to premature rupture of amniotic membrane, dichorionic diamniotic twinning and gestational diabetes, was subjected to chromosomal karyotyping analysis and copy number variations sequencing (CNV-seq). RESULTS: The child was found to have facial dysmorphism,...
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