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Article

22q11.2 deletion in patients with conotruncal heart defect and del22q syndrome phenotype.

Arquivos brasileiros de cardiologia - 1 Apr 2009

Belangero Sintia Iole Nogueira, Bellucco Fernanda T S, Kulikowski Leslie Domenici, Christofolini Denise M, Cernach Mirlene C S P, Melaragno Maria Isabel

Abstract excerpt

BACKGROUND: The 22q11.2 deletion syndrome is the most frequent human microdeletion syndrome. The phenotype is highly variable, being characterized by conotruncal heart defect, facial dysmorphisms, velopharyngeal insufficiency, learning difficulties and mental retardation. OBJECTIVE: The objective of this study was to investigate the frequency of deletion 22q11.2 in a Brazilian sample of individuals with isolated...

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Identifiers

PMID: 19565140
DOI: 10.1590/s0066-782x2009000400010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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