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Article

Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR).

American journal of medical genetics - 3 Sept 1999

McQuade L, Christodoulou J, Budarf M, Sachdev R, Wilson M, Emanuel B, Colley A

Abstract excerpt

The apparent lack of genotype/phenotype correlation in patients with the DiGeorge anomaly and velocardiofacial syndrome (DGA/VCFS; the "22q11 deletion syndrome") indicates a complex genetic condition. Most cases, whatever the phenotype, have a 1.5-3 Mb chromosomal deletion that includes the minimal DiGeorge critical region (MDGCR). Another potential critical region on 22q11 has been suggested based on two...

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Source

Identifiers

PMID: 10440825

Genes

COMT
TBX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR).PMID 10440825Read ↗

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Chromosome 22q11.2 Deletion Syndrome: DiGeorge Syndrome/Velocardiofacial SyndromeSemantic proximity Read ↗

5q11.2 deletion syndrome revisited-Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome.Semantic proximity Read ↗

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