Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients

J M McGaughran; L Gaunt; J Dore; F Petrij; H G Dauwerse; D Donnai

doi:10.1136/jmg.33.1.82

Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients

J Med Genet. 1996 Jan;33(1):82-3. doi: 10.1136/jmg.33.1.82.

Authors

J M McGaughran¹, L Gaunt, J Dore, F Petrij, H G Dauwerse, D Donnai

Affiliation

¹ Department of Clinical Genetics, St Mary's Hospital, Manchester, UK.

Abstract

We report two patients with Rubinstein-Taybi syndrome out of a total of 16 tested who have a deletion of the region visualised by the cosmid probe RT1. These results further confirm this as a locus for Rubinstein-Taybi syndrome.

MeSH terms

Chromosomes, Human, Pair 16 / genetics*
Cosmids
DNA Probes
Gene Deletion*
Humans
In Situ Hybridization, Fluorescence
Male
Rubinstein-Taybi Syndrome / genetics*
United Kingdom
Y Chromosome / genetics

Substances

DNA Probes