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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


Schinzel, Albert; Binkert, Franz; Lillington, Debra M; Sands, Margaret; Stocks, Richard J; Lindenbaum, Richard H; Matthews, Helen; Sheridan, Hilary (1991). 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, 28(5):352-355.

Abstract

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 deletion include a pattern of minor dysmorphic features (prominent forehead, ptosis of the upper eyelids, full periorbital tissue, epicanthic folds, strabismus), muscular hypotonia, seizures, behavioural disorders, and lack of major malformations.

Abstract

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 deletion include a pattern of minor dysmorphic features (prominent forehead, ptosis of the upper eyelids, full periorbital tissue, epicanthic folds, strabismus), muscular hypotonia, seizures, behavioural disorders, and lack of major malformations.

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Additional indexing

Item Type:Journal Article, refereed, further contribution
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), Genetics
Language:English
Date:1 May 1991
Deposited On:18 Apr 2023 14:15
Last Modified:29 Apr 2024 01:37
Publisher:BMJ Publishing Group
ISSN:0022-2593
OA Status:Closed
Free access at:PubMed ID. An embargo period may apply.
Publisher DOI:https://doi.org/10.1136/jmg.28.5.352
PubMed ID:1865477
Other Identification Number:PMCID: PMC1016859