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Am J Med Genet. 1992 Sep 1;44(1):126-8.

Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3.

Author information

1
Clinique de Pédiatrie et Génétique Médicale, Hôpital Pellegrin-Enfants, Bordeaux, France.

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.

PMID:
1519642
DOI:
10.1002/ajmg.1320440134
[Indexed for MEDLINE]

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