Ankara Üniversitesi Tıp Fakültesi Mecmuası 0365-8104 1307-5608 Ankara University Pediatric Genetic Illnesses Çocuk Genetik Hastalıkları Rubinstein - Taybi Syndrome Rubinstein - Taybi Sendromu Yüksel Memnune ANKARA ÜNİVERSİTESİ, TIP FAKÜLTESİ, DAHİLİ TIP BİLİMLERİ BÖLÜMÜ, ÇOCUK SAĞLIĞI VE HASTALIKLARI ANABİLİM DALI, SOSYAL PEDİATRİ BİLİM DALI 12 30 1974 27 3-4 831 845 09 01 1974 12 30 1974 Copyright © 1947, Ankara Üniversitesi Tıp Fakültesi Mecmuası 1947 Ankara Üniversitesi Tıp Fakültesi Mecmuası

A case of Rubinstein - Taybi is presented. The Parents were the second cousins. On both sides of the patient's family there were four cases of polydactilism. The clinical, cytogenetic and dermatoglyphic features of the patient and his parents' are compared with the ones in the literature.

İkinci dereceden akraba evliliğinden doğan ve ailenin hem maternal, hem de paternal tarafında 4 kişide polidaktili bulunan bir Rubinstein - Taybi vakası bildirilmiştir. Vakanın klinik, sitogenetik bulguları, anne, babasının ve kendisinin dermatoglifik özellikleri literatürdeki vakalarla karşılaştırılmıştır.

 Rubinstein-Taybi Syndrome Mental Retardation Broad Thumbs Rubinstein-Taybi Sendromu Mental Gerilik Geniş Başparmaklar Ankara University, Faculty of Medicine, Department of Child Health and Diseases 1 — Rubinstein, H. J., Taybi, H. : Broad thumbs and great toes and facial abnormalities : a possible mental retardation syndrome. Amer. J. Dis. Child. 105: 588, 1963. 2 — Renda, Y. : Rubinstein -Taybi Syndrome. The Turkish J. Pediat. 14: 118, 1972. 3 — Johnson, C. F. : Broad thumbs and broad great toes with facial abnormalities and mental retardation. J. Ped. 68942, 1966. 4 — Van Gelderen, H. H., Gaillard, J. L., Schaberg, A. :Trisomy G/normal mosaics in non - mongoloid mentally deficient children. Acta Paediat. Scand. 56 517, 1967. 5 — Davison, B. C. C., Ellis, H. L., Kuzemko, J. A., Roberts, D. F. : Mental retardation with facial abnormalities, broad thumbs and toes and unusual dermatoglyphics. Develop Med. Child. Neurol. 9 588, 1967. 6 — Simpson, N. E. : The Rubinstein -Taybi Syndrome chromosomal studies. Amer. J. Hum. Genet. 25: 230, 1973. 7 — Berg, J. M., Smith, C. F., Ridler, M. A. C., Dutton, G., Green, E. A., Richards, B. W. : On the association of broad thums and first toes with other physical peculiarities and mental retardation. J. Ment. Defic. Res. 10:204, 1966. 8 — Giroux, J., Miller, J. R. : Dermatoglyphics of the broad thumb and great toes syndrome. Amer. J. Dis. Child. 113: 207, 1967. 9 — Padfield, C. J., Partington, M. W., Simpson, N. E. : The Rubinstein - Taybi Syndrome. Arch. Dis. Childh. 43:94, 1968. 10 — Simpson, N. E., Brissenden, J. E. The Rubinstein - Taybi Syndrome. Familial and Dermatoglyphic data. Amer. J. Hum. Genet. 25: 225, 1973.