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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...

Topics

Abnormalities, Multiple
Chromosome Deletion
Chromosomes, Human, Pair 18
Female
Humans
Intellectual Disability
Male
Muscle Hypotonia
Phenotype
Seizures
Skull

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1865477-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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