title: [Rubinstein-Taybi syndrome].
abstract: The Rubinstein-Taybi syndrome (RTS) is a well-defined complex of congenital malformations characterized by mental and growth retardation, broad thumbs, broad big toes, and typical face. A locus for a gene involved in the origin of RTS has been determined on chromosome 16 (16p13.3). RTS is caused by submicroscopic interstitial deletions within 16p13.3 in approximatively 25% of patients, using fluorescence in situ hybridization with specific probes.
authors.affiliation: Service de pédiatrie et génétique médicale, hôpital Pellegrin-Enfants, Bordeaux, France.
authors.forename: D
authors.initials: D
authors.lastname: Lacombe
mesh_terms: D000293:Adolescent; D002675:Child, Preschool; D006801:Humans; D007231:Infant, Newborn; D012415:Rubinstein-Taybi Syndrome / Q000175:diagnosis / Q000235:genetics
vernacular_title: Le syndrome de Rubinstein-Taybi.