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[Chromosome 22q11.2 microdeletion and phenotype analysis of patients with non-syndromic tetralogy of Fallot].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2011

Zhang Ze-wei, Deng Jian-ying, Ying Li-yang, Gao Zhan, Jin Jie, Qi Jian-chuan, Tan Zheng

Abstract excerpt

OBJECTIVE: To investigate the frequency and clinical phenotypes of 22q11.2 microdeletion in patients with non-syndromic tetralogy of Fallot (TOF). METHODS: Six-eight non-syndromic TOF patients (38 males and 30 females, aged 0-11 years) were selected and evaluated by history, physical examination and review of medical records. After informed consent was obtained, peripheral blood was drawn for genomic DNA...

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PMID: 22161111
DOI: 10.3760/cma.j.issn.1003-9406.2011.06.025

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