Article
[Molecular genetic analysis of a child with de novo 16p11.2 microdeletion].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2020
Zhuang Jianlong, Wang Yuanbai, Zeng Shuhong, Wang Junyu, Jiang Yuying
Abstract excerpt
OBJECTIVE: To explore the genetic basis for a child featuring developmental delay, intelligent disability and language deficit. METHODS: Peripheral blood samples of the child and her parents were collected for routine G-banding karyotyping analysis and single nucleotide polymorphism array (SNP array) detection. Amniotic fluid was also sampled from the mother for karyotyping analysis and SNP array detection....
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