[Rubinstein-Taybi syndrome].
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.
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Service de pédiatrie et génétique médicale, hôpital Pellegrin-Enfants, Bordeaux, France.
D000293:Adolescent; D002675:Child, Preschool; D006801:Humans; D007231:Infant, Newborn; D012415:Rubinstein-Taybi Syndrome / Q000175:diagnosis / Q000235:genetics
Le syndrome de Rubinstein-Taybi.