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Article

22q11.2 microduplication in a family with recurrent fetal congenital heart disease.

European journal of medical genetics - 1 Jan 2000

Hu Ping, Ji Xiuqing, Yang Chi, Zhang Jingjing, Lin Ying, Cheng Jian, Ma Dingyuan, Cao Li, Yi Long, Xu Zhengfeng

Abstract excerpt

People carrying a 22q11.2 microduplication display a phenotype varying from normal to severely affected. We report a phenotypically normal female presented with a fetus having a severe congenital heart defect with ventricular septal defect, tricuspid atresia, patent ductus arteriosus and interrupted aortic arch. The pregnant woman had a history of overall three consecutive aberrant pregnancies with tetralogy of...

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Identifiers

PMID: 21473936
DOI: 10.1016/j.ejmg.2011.03.009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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