title: Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.
abstract: The Rubinstein-Taybi syndrome (RTS) is a well-defined complex of congenital malformations characterized by facial abnormalities, broad thumbs and big toes, and mental retardation. The breakpoint of two distinct reciprocal translocations occurring in patients with a clinical diagnosis of RTS was located to the same interval on chromosome 16, between the cosmids N2 and RT1, in band 16p13.3. By using two-color fluorescence in situ hybridization, the signal from RT1 was found to be missing from one chromosome 16 in 6 of 24 patients with RTS. The parents of five of these patients did not show a deletion of RT1, indicating a de novo rearrangement. RTS is caused by submicroscopic interstitial deletions within 16p13.3 in approximately 25% of the patients. The detection of microdeletions will allow the objective conformation of the clinical diagnosis in new patients and provides an excellent tool for the isolation of the gene causally related to the syndrome.
authors.affiliation: Department of Human Genetics, Leiden University, Sylvius Laboratories, The Netherlands.
authors.forename: M H
authors.initials: MH
authors.lastname: Breuning
authors.forename: H G
authors.initials: HG
authors.lastname: Dauwerse
authors.forename: G
authors.initials: G
authors.lastname: Fugazza
authors.forename: J J
authors.initials: JJ
authors.lastname: Saris
authors.forename: L
authors.initials: L
authors.lastname: Spruit
authors.forename: H
authors.initials: H
authors.lastname: Wijnen
authors.forename: N
authors.initials: N
authors.lastname: Tommerup
authors.forename: C B
authors.initials: CB
authors.lastname: van der Hagen
authors.forename: K
authors.initials: K
authors.lastname: Imaizumi
authors.forename: Y
authors.initials: Y
authors.lastname: Kuroki
authors.forename: M J
authors.initials: MJ
authors.lastname: van den Boogaard
authors.forename: J M
authors.initials: JM
authors.lastname: de Pater
authors.forename: E C
authors.initials: EC
authors.lastname: Mariman
authors.forename: B C
authors.initials: BC
authors.lastname: Hamel
authors.forename: H
authors.initials: H
authors.lastname: Himmelbauer
authors.forename: A M
authors.initials: AM
authors.lastname: Frischauf
authors.forename: R
authors.initials: R
authors.lastname: Stallings
authors.forename: G C
authors.initials: GC
authors.lastname: Beverstock
authors.forename: G J
authors.initials: GJ
authors.lastname: van Ommen
authors.forename: R C
authors.initials: RC
authors.lastname: Hennekam
mesh_terms: D002872:Chromosome Deletion; D002885:Chromosomes, Human, Pair 16; D003360:Cosmids; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D012415:Rubinstein-Taybi Syndrome / Q000235:genetics*