Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients.
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.
McGaughran
J M
JM
Department of Clinical Genetics, St Mary's Hospital, Manchester, UK.
Gaunt
L
L
Dore
J
J
Petrij
F
F
Dauwerse
H G
HG
Donnai
D
D
D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D003360:Cosmids; D015342:DNA Probes; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D012415:Rubinstein-Taybi Syndrome / Q000235:genetics*; D006113:United Kingdom; D014998:Y Chromosome / Q000235:genetics
D015342:DNA Probes