title: Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3.
abstract: A two month-old girl was diagnosed as a case of Rubinstein-Taybi syndrome (RTS) on typical facial dysmorphism, broad and duplicated distal phalanges of thumbs and halluces, growth retardation and psychomotor development delay. Chromosome analysis demonstrated a de novo pericentric inversion of one chromosome 16: 46,XX,inv(16)(p13.3;q13). This association confirms assignment of a locus for RTS gene to 16p13.3, as two others translocations involving the same breakpoint have already been reported.
authors.affiliation: Clinique de Pédiatrie et Génétique Médicale, Hôpital Pellegrin-Enfants, Bordeaux, France.
authors.forename: D
authors.initials: D
authors.lastname: Lacombe
authors.forename: R
authors.initials: R
authors.lastname: Saura
authors.forename: L
authors.initials: L
authors.lastname: Taine
authors.forename: J
authors.initials: J
authors.lastname: Battin
mesh_terms: D002871:Chromosome Banding; D007446:Chromosome Inversion; D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6; D005260:Female; D006801:Humans; D007223:Infant; D012415:Rubinstein-Taybi Syndrome / Q000235:genetics*