Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3.
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.
Lacombe
D
D
Clinique de Pédiatrie et Génétique Médicale, Hôpital Pellegrin-Enfants, Bordeaux, France.
Saura
R
R
Taine
L
L
Battin
J
J
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*