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

J P Fryns; A Kleczkowska; A Vogels; H Van den Berghe

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

Ann Genet. 1989;32(3):171-3.

Authors

J P Fryns¹, A Kleczkowska, A Vogels, H Van den Berghe

Affiliation

¹ Centre for Human Genetics, U.Z. Gasthuisberg, Leuven, Belgium.

PMID: 2573313

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.

Publication types

Case Reports

MeSH terms

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