Rubinstein‐Taybi syndrome with de novo reciprocal translocation t(2;16) (p13.3; p13.3)
- 15 March 1991
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 38 (4) , 636-639
- https://doi.org/10.1002/ajmg.1320380430
Abstract
We describe a girl with typical Rubinstein‐Taybi syndrome with apparently balanced reciprocal translocation between chromosome 2 and 16. The patient has a condition characterized by mental retardation, typical facial manifestations, broad thumbs and first toes. Cytogenetic studies of the patient showed a reciprocal translocation without visible deletion, karyotype: 46, XX, t(2;16) (p13.3; p13.3). Her parents had normal chromosomes. These results suggest that the locus of the gene for the Rubinstein‐Taybi syndrome may be situated at 2p13.3 or 16p13.3.Keywords
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