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Article

A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population.

Pediatrics - 1 Jul 2003

Botto Lorenzo D, May Kristin, Fernhoff Paul M, Correa Adolfo, Coleman Karlene, Rasmussen Sonja A, Merritt Robert K, O'Leary Leslie A, Wong Lee-Yang, Elixson E Marsha, Mahle William T, Campbell Robert M

Abstract excerpt

OBJECTIVES: Although several studies describe the 22q11.2 deletion, population-based data are scant. Such data are needed to evaluate properly the impact, distribution, and clinical presentation of the deletion in the population. Our goals were to assess the population-based birth prevalence of the 22q11.2 deletion and its associated phenotype and its impact on the occurrence of heart defects. METHODS: We...

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PMID: 12837874
DOI: 10.1542/peds.112.1.101

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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