Normal phenotype and slight mental retardation in de novo distal 8p deletion (8pter----8p23.1:).

Annales de genetique ·Vol. 32 ·No. 3 ·1989-00-00 ·Pages 171-3

Fryns JP, Kleczkowska A, Vogels A, Van den Berghe H

Abstract

In this report we present a 9-year-old boy with mental retardation, behavioural problems and terminal deletion of the short arm of chromosome 8(8pter----8p23.1:). In contrast with previously reported patients with larger terminal and interstitial 8p deletions he did not present major phenotypic abnormalities.

MeSH Terms

Child Chromosome Aberrations/genetics,pathology Chromosome Deletion Chromosome Disorders Chromosomes, Human, Pair 8/ultrastructure Cryptorchidism/genetics Humans Intellectual Disability/genetics Male Mental Disorders/genetics Phenotype Seizures/genetics

Authors & Affiliations

4 authors, click to expand affiliations / ORCID

Fryns J P

Centre for Human Genetics, U.Z. Gasthuisberg, Leuven, Belgium.

Kleczkowska A

Vogels A

Van den Berghe H

Article Info

Journal

Annales de genetique

Abbr.

Ann Genet

ISSN

0003-3995

Published

1989-00-00

Pages

171-3

Language

English

Region

Netherlands

NLM ID

0370562

Subset

External Links

PubMed source

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Normal phenotype and slight mental retardation in de novo distal 8p deletion (8pter----8p23.1:).

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