Syndrome of proximal interstitial deletion 4p15: Report of three cases and review of the literature

16 January 1995

journal article
case report
Published by Wiley in American Journal of Medical Genetics

Vol. 55 (2) , 147-154
https://doi.org/10.1002/ajmg.1320550203

Abstract

We report on two boys and a girl with interstitial deletion in the short arm of chromosome 4 including the segment p15.2p15.33. All had normal growth with psychomotor retardation, multiple minor congenital anomalies, and a characteristic face distinct from that of the Wolf‐Hirschhorn syndrome. One of the patients had congenitally enlarged penis. These patients resemble some of the previously reported patients with similar cytogenetic abnormalities and suggests the recognition of a specific clinical chromosome deletion syndrome.

Keywords

This publication has 7 references indexed in Scilit:

Interstitial deletion of the short arm of chromosome 4 in a boy with mild psychomotor retardation and dysmorphism
Clinical Genetics, 1990
De novo del(4) (p15.32) with incomplete expression of the Wolf‐Hirschhorn syndrome
Clinical Genetics, 1986
A complex structural rearrangement of chromosome 4 in a woman without phenotypic features of Wolf‐Hirschhorn syndrome
Clinical Genetics, 1985
A taxonomic approach to the del(4p) phenotype
American Journal of Medical Genetics, 1985
Interstitial deletion of the short arm of chromosome 4.
Journal of Medical Genetics, 1984
Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome [del(4p)]
Human Genetics, 1981
Proximal 4p-deletion: Phenotype differs from classical 4p-syndrome
The Journal of Pediatrics, 1977