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PMID: 8230162 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

DiGeorge syndrome: part of CATCH 22.

Journal of medical genetics ·Vol. 30 ·No. 10 ·1993-10-00 ·Pages 852-6

Wilson DI, Burn J, Scambler P, Goodship J

Abstract

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 the severe end of the clinical spectrum embraced by the acronym CATCH 22 syndrome; Cardiac defects, Abnormal facies, Thymic hypoplasia, Cleft palate, and Hypocalcaemia resulting from 22q11 deletions.

MeSH Terms

Abnormalities, Multiple/classification Child Child, Preschool Chromosomes, Human, Pair 22 Cleft Palate DiGeorge Syndrome/classification,pathology Ear, External/abnormalities Face/abnormalities Female Genetic Variation Heart Defects, Congenital Humans Hypocalcemia Infant Male Nose/abnormalities Phenotype Terminology as Topic Thymus Gland/abnormalities

Authors & Affiliations

4 authors, click to expand affiliations / ORCID

Wilson D I

Division of Human Genetics, University of Newcastle upon Tyne, UK.

Burn J

Scambler P

Goodship J

References (13)

13 references, click to expand

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Article Info

Journal

Journal of medical genetics

Abbr.

J Med Genet

ISSN

0022-2593

DOI

10.1136/jmg.30.10.852

Published

1993-10-00

Pages

852-6

Language

English

Region

England

NLM ID

2985087R

PMCID

PMC1016569

Subset

External Links

PubMed source DOI: 10.1136/jmg.30.10.852 PMC Full Text View journal details

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