Interstitial deletion of the short arm of chromosome 4. A phenotype distinct from the Wolf-Hirschhorn syndrome

J P Fryns; Yang-Aisheng; A Kleczkowska; F Lemmens; W Vandecasseye; H van den Berghe

Interstitial deletion of the short arm of chromosome 4. A phenotype distinct from the Wolf-Hirschhorn syndrome

Ann Genet. 1989;32(1):59-61.

Authors

J P Fryns¹, Yang-Aisheng, A Kleczkowska, F Lemmens, W Vandecasseye, H van den Berghe

Affiliation

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

PMID: 2751251

Abstract

In this paper we report a 3-month-old male newborn with marked hypotonia and an interstitial deletion of the short arm of chromosome 4 but with preservation of the 4p16 band (karyotype 46,XY,del(4)(pter----p15.3::p14----cen----qter). In contrast to patients with a pure 4p16 deletion this patient presented dysmorphic stigmata which were much more discrete than those found in the typical Wolf-Hirschhorn syndrome.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Chromosome Banding
Chromosome Deletion
Chromosomes, Human, Pair 4*
Humans
Male
Phenotype
Syndrome