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Article

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.

American journal of medical genetics. Part A - 1 Mar 2010

Dhar S U, del Gaudio D, German J R, Peters S U, Ou Z, Bader P I, Berg J S, Blazo M, Brown C W, Graham B H, Grebe T A, Lalani S, Irons M, Sparagana S, Williams M, Phillips J A, Beaudet A L, Stankiewicz P, Patel A, Cheung S W, Sahoo T

Abstract excerpt

The 22q13.3 deletion syndrome results from loss of terminal segments of varying sizes at 22qter. Few genotype-phenotype correlations have been found but all patients have mental retardation and severe delay, or absence of, expressive speech. We carried out clinical and molecular characterization of 13 patients. Developmental delay and speech abnormalities were common to all and comparable in frequency and...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 20186804
DOI: 10.1002/ajmg.a.33253
PMCID: PMC3119894

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Source receipt: pubmed, retrieved 7 Sept 2026.

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