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[Genetic analysis of a fetus with Pitt-Hopkins syndrome due to a 18q21.2q21.31 microdeletion].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 May 2024

Zhang Yan, Zeng Lina, Lin Li, Dong Xian, Lin Kun, Chen Huanghui

Abstract excerpt

OBJECTIVE: To carry out invasive prenatal diagnosis for a fetus with ultrasound-indicated agenesis of corpus callosum and explore its genetic etiology. METHODS: A pregnant woman presented at the Affiliated Hospital of Putian College on December 16, 2022 was selected as the study subject. Amniotic fluid and peripheral blood samples from the fetus and the couple were collected. Conventional G-banded chromosomal...

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PMID: 38684313
DOI: 10.3760/cma.j.cn511374-20230428-00254

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