Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2019
[Genetic analysis of a child with 13q deletion syndrome featuring congenital heart disease].
СтатьяНазвание и аннотация: Перевод в очереди
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Shen Nan, Gou Rui, Yu Han, Gao Xin, Pang Huanping, Liu Yi, Gai Zhongtao
Аннотация
OBJECTIVE: To explore the genetic basis of a child with congenital heart disease (CHD).
METHODS: Clinical examination of the child was carried out. Chromosomal microarray analysis (CMA) and quantitative PCR were carried out to detect copy number variations.
RESULTS: The major features of the child included CHD (ventricular septal defect, severe pulmonary hypertension, tricuspid regurgitation, patent ductus arteriosus, and patent foramen ovale), severe pneumonia and liver failure. A de novo 3.2 Mb deletion encompassing 25 genes in 13q34 and a paternal 2.2 Mb duplication in 19p13.3 were revealed by CMA and qPCR.
CONCLUSION: The 13q34 region probably contains susceptibility genes for CHD.
METHODS: Clinical examination of the child was carried out. Chromosomal microarray analysis (CMA) and quantitative PCR were carried out to detect copy number variations.
RESULTS: The major features of the child included CHD (ventricular septal defect, severe pulmonary hypertension, tricuspid regurgitation, patent ductus arteriosus, and patent foramen ovale), severe pneumonia and liver failure. A de novo 3.2 Mb deletion encompassing 25 genes in 13q34 and a paternal 2.2 Mb duplication in 19p13.3 were revealed by CMA and qPCR.
CONCLUSION: The 13q34 region probably contains susceptibility genes for CHD.