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Article

DiGeorge syndrome: part of CATCH 22.

Journal of medical genetics - 1 Oct 1993

Wilson D I, Burn J, Scambler P, Goodship J

Abstract excerpt

DiGeorge syndrome (DGS) comprises thymic hypoplasia, hypocalcaemia, outflow tract defects of the heart, and dysmorphic facies. It results in almost all cases from a deletion within chromosome 22q11. We report the clinical findings in 44 cases. We propose that DiGeorge syndrome should be seen as t...

Topics

Abnormalities, Multiple
Child
Child, Preschool
Chromosomes, Human, Pair 22
Cleft Palate
DiGeorge Syndrome
Ear, External
Face
Female
Genetic Variation
Heart Defects, Congenital
Humans
Hypocalcemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant

Male

Nose

Phenotype

Terminology as Topic

Source

Open in PubMed Open full text

Identifiers

PMID: 8230162
DOI: 10.1136/jmg.30.10.852
PMCID: PMC1016569

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8230162-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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