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Article

Genetic characterisation of 22q11.2 variations and prevalence in patients with congenital heart disease.

Archives of disease in childhood - 1 Apr 2020

Hou Hai-Tao, Chen Huan-Xin, Wang Xiu-Li, Yuan Chao, Yang Qin, Liu Zhi-Gang, He Guo-Wei

Abstract excerpt

OBJECTIVES: The 22q11.2 deletion syndrome is considered the most frequent chromosomal microdeletion syndrome in humans and the second leading chromosomal cause of congenital heart disease (CHD). We aimed to identify the prevalence and the detailed genetic characterisation of 22q11.2 region in children with CHD including simple defects and to explore the genotype-phenotype relationship between...

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PMID: 31666243
DOI: 10.1136/archdischild-2018-316634

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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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