论文信息 - Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16)(p13.3;p13.3).

Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16)(p13.3;p13.3).

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.

Y. Kuroki | K. Imaizumi

[1] R. Matalon,et al. Dominant inheritance of a syndrome similar to Rubinstein-Taybi. , 1987, American journal of medical genetics.

[2] R. Sparkes,et al. High resolution chromosome banding in the Rubinstein—Taybi syndrome , 1983, Clinical genetics.

[3] R. Gastaldi,et al. [The Rubinstein-Taybi syndrome. Presentation of 2 new cases]. , 1982, Minerva pediatrica.

[4] J. Welch,et al. Non-random occurrence of 7–14 translocations in human lymphocyte cultures , 1975, Nature.

[5] S. Ne. The Rubinstein-Taybi Syndrome: chromosomal studies. , 1973 .

[6] N. Simpson,et al. The Bubinstein-Taybi syndrome: familial and dermatoglyphic data. , 1973, American journal of human genetics.

[7] C. Laurent,et al. [Partial monosomy of a C group chromosome (Cp-)]. , 1968, Annales de genetique.

[8] B. C. Davison,et al. Mental Retardation with Facial Abnormalities, Broad Thumbs and Toes and Unusual Dermatoglyphics , 1967, Developmental medicine and child neurology.

[9] J H RUBINSTEIN,et al. Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. , 1963, American journal of diseases of children.