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Article

Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype.

Journal of medical genetics - 1 May 1991

Schinzel A, Binkert F, Lillington D M, Sands M, Stocks R J, Lindenbaum R H, Matthews H, Sheridan H

Abstract excerpt

We describe three unrelated patients with apparently identical interstitial deletions of the segment (18) (q12.2q21.1). They were a short and markedly mentally retarded 5 year old girl, a macrocephalic and obese 2 1/2 year old boy with moderate mental retardation, and a macrocephalic, severely mentally retarded 5 year old boy. Findings common to all five liveborn patients so far identified as carrying this...

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Identifiers

PMID: 1865477
DOI: 10.1136/jmg.28.5.352
PMCID: PMC1016859

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