title: Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients.
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.
authors.affiliation: Department of Clinical Genetics, St Mary's Hospital, Manchester, UK.
authors.forename: J M
authors.initials: JM
authors.lastname: McGaughran
authors.forename: L
authors.initials: L
authors.lastname: Gaunt
authors.forename: J
authors.initials: J
authors.lastname: Dore
authors.forename: F
authors.initials: F
authors.lastname: Petrij
authors.forename: H G
authors.initials: HG
authors.lastname: Dauwerse
authors.forename: D
authors.initials: D
authors.lastname: Donnai
mesh_terms: 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
chemical_list: D015342:DNA Probes