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Article

The prevalence of chromosome 22q11.2 deletions in 2,478 children with cardiovascular malformations. A population‐based study

21 Dec 2011

Abstract excerpt

Deletion of chromosome 22q11.2 is considered one of the most frequent genetic causes of cardiovascular malformations. It is frequently associated with conotruncal malformations, but may also be present among patients with nonconotruncal malformations. The aim of the present study was to establish the prevalence of the 22q11.2 deletion in an unselected population-based cohort of children with various...

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PMID: 22190294
DOI: 10.1002/ajmg.a.34250

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