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Article

Molecular studies of DiGeorge syndrome.

American journal of human genetics - 1 May 1990

Fibison W J, Budarf M, McDermid H, Greenberg F, Emanuel B S

Abstract excerpt

DiGeorge Syndrome (DGS) is often associated with loss of a portion of the proximal long arm of chromosome 22. Using a probe for the D22S9 locus, we have examined DNA from eight DGS cell lines and from one balanced-translocation carrier parent of a DGS proband. The D22S9 locus is deleted in four DGS patients, with deletion of 22pter----q11 because of unbalanced translocation. The locus is not deleted from three...

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Identifiers

PMID: 2339689
PMCID: PMC1683603

Genes

BCR

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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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Molecular studies of DiGeorge syndrome.PMID 2339689Read ↗

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