Cytogenetic and clinical features of a 13 year old male with trisomy 8.
Trisomy 8 is a relatively rare chromosomal abnormality. The majority of cases present with the mosaic form. Regular trisomy 8 is usually lethal and frequently results in miscarriage, while those with "trisomy 8 mosaicism" are more likely to survive. We report clinical observations and cytogenetic studies of a 13-year-old male with regular trisomy 8 and compared with those of other known cases of trisomy 8. The most discriminating findings for this condition are skeletal anomalies, restricted articular function, and speech problems. Our results are in agreement with those of previous studies for trisomy 8.
Department of Medical Biology and Genetics, Medical Faculty, Dicle University, Diyarbakir, Turkey.
Mahmut
M
Balkan
Department of Medical Biology and Genetics, Medical Faculty, Dicle University, Diyarbakir, Turkey.
Mehmet
M
Fidanboy
Department of Radiology, Medical Faculty, Dicle University, Diyarbakir, Turkey.
Cihan
C
Özmen
Department of Pediatrics, Medical Faculty, Dicle University, Diyarbakir, Turkey.
M Nuri
MN
Özbek
Department of Pediatric Surgery, Medical Faculty, Dicle University, Diyarbakir, Turkey.
Selçuk
S
Otçu
Department of Plastic, Reconstructive, and Aesthetic Surgery, Medical Faculty, Dicle University, Diyarbakir, Turkey.
Emin
E
Kapı
Department of Medical Biology and Genetics, Medical Faculty, Dicle University, Diyarbakir, Turkey.
Turgay
T
Budak
Trisomy 8; chromosome; restricted articular function; skeletal anomalies