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Article

Cardiac Registry screening for DiGeorge Critical Region deletion using loss of heterozygosity analysis.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society - 1 Jan 2000

Katzman Philip J, Smoot Leslie B, Cox Gerald F

Abstract excerpt

DiGeorge (DGS), velocardiofacial, and conotruncal anomaly face syndromes comprise a phenotypic spectrum that is associated with a submicroscopic 22q11.2 deletion in the majority of cases. These syndromes variably express complex congenital heart disease, cellular immune deficits, hypocalcemia, craniofacial anomalies, and learning disabilities. This retrospective study correlates the presence of a deletion in this...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16944986
DOI: 10.2350/06-02-0041.1

Provenance

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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