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Article

Deletions within chromosome 22q11 in familial congenital heart disease.

Lancet (London, England) - 5 Sept 1992

Wilson D I, Goodship J A, Burn J, Cross I E, Scambler P J

Abstract excerpt

Because a locus on chromosome 22q11 is deleted in most individuals with DiGeorge and Shprintzen syndromes--conditions in which heart abnormalities are an important feature--we have looked for deletions in nine families with recurrent outflow-tract heart defects. In five families, chromosome 22 deletions were detected in all the living affected individuals studied and also in the clinically normal father of three...

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Identifiers

PMID: 1355155
DOI: 10.1016/0140-6736(92)92107-q

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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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Deletions within chromosome 22q11 in familial congenital heart disease.PMID 1355155Read ↗

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