On two patients with and without the classical Wolf-Hirschhorn syndrome (WHS) sharing the same chromosome 4p16.3 specific probe deletion: evidence of a contiguous gene deletion syndrome

P Petit; J Schmit; H Van den Berghe; J P Fryns

doi:10.1111/j.1399-0004.1996.tb02340.x

On two patients with and without the classical Wolf-Hirschhorn syndrome (WHS) sharing the same chromosome 4p16.3 specific probe deletion: evidence of a contiguous gene deletion syndrome

Clin Genet. 1996 Jul;50(1):19-22. doi: 10.1111/j.1399-0004.1996.tb02340.x.

Authors

P Petit¹, J Schmit, H Van den Berghe, J P Fryns

Affiliation

¹ Centre for Human Genetics, University of Leuven, Belgium.

PMID: 8891381
DOI: 10.1111/j.1399-0004.1996.tb02340.x

Abstract

We report here on phenotype-karyotype correlations in two patients with and without complete features of the WHS but sharing the lack of a specific cosmic probe (D4S96/D4Z1) from 4p16.3. These findings indicate that WHS is true a contiguous gene deletion syndrome in nature and expression.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / etiology
Abnormalities, Multiple / genetics*
Adolescent
Adult
Animals
Child
Child, Preschool
Chromosome Banding
Chromosomes, Human, Pair 4*
Cleft Lip / genetics
Cleft Palate / genetics
DNA Probes
Eye Abnormalities / genetics
Female
Gene Deletion*
Heart Defects, Congenital
Humans
In Situ Hybridization, Fluorescence / methods
Infant, Newborn
Intellectual Disability / genetics
Karyotyping
Male
Mice / abnormalities
Pregnancy

Substances

DNA Probes