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Article

Genetic analyses in two extended families with deletion 22q11 syndrome: importance of extracardiac manifestations.

The Journal of pediatrics - 1 Mar 2005

Shooner Kerry A, Rope Alan F, Hopkin Robert J, Andelfinger Gregor U, Benson D Woodrow

Abstract excerpt

OBJECTIVES: Cardiovascular malformations (CVMs) are reported to be common (approximately 75%) in patients with deletion 22q11.2 (del22q11) syndrome. To better understand why deletions go unrecognized, we characterized the phenotype in deleted individuals in two large kindreds with particular emphasis on the presence or absence of CVM. STUDY DESIGN: After the diagnosis of del22q11 in two unrelated probands with...

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Identifiers

PMID: 15756225
DOI: 10.1016/j.jpeds.2004.10.038

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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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