Wolf-Hirschhorn syndrome - a case with 4p16 deletion demonstrated by standard chromosome analysis

Articol din publicatia Timisoara Medical Journal nr. 4/2004
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Valerica Belengeanu1, Kinga Rozsnyai1, Adrian Lacatusu2, Simona Farcas1, Cristina Gug1

1Department of Medical Genetics, University of Medicine and Pharmacy, Timișoara, Romania

2 II. Department of Pediatrics, Timiș County Hospital, Timișoara, Romania

Correspondence to:

Valerica Belengeanu, Universitatea de Medicină și Farmacie, Departamentul de Genetică Medicală, Piața Eftimie Murgu 2., 1900 Timișoara, Romania
Telefon: 40 256 204476; Fax: 40 256 190626; E-mail: belvtim@yahoo.com

Abstract

We present a case with a 4p terminal deletion, evidenced in GTG-banded chromosome preparations. On clinical examination a large number of phenotypic signs described in the classical Wolf-Hirschhorn syndrome were found. We discuss recent data related to phenotype-genotype correlations and summarize the latest results regarding the molecular pathology of the syndrome.
Key Words: 4p deletion, Wolf-Hirschhorn syndrome, classic phenotype