Affiliations: Department of Medical Biology and Genetics, Medical Faculty, Dicle University, Diyarbakir, Turkey | Department of Radiology, Medical Faculty, Dicle University, Diyarbakir, Turkey | Department of Pediatrics, Medical Faculty, Dicle University, Diyarbakir, Turkey | Department of Pediatric Surgery, Medical Faculty, Dicle University, Diyarbakir, Turkey | Department of Plastic, Reconstructive, and Aesthetic Surgery, Medical Faculty, Dicle University, Diyarbakir, Turkey
Note: [] Corresponding author: Mahmut Balkan, Dicle University Medical Faculty, Department of Medical Biology and Genetics, 21280, Diyarbakir, Turkey. Tel.: +90 412 2488001; Fax: +90 412 2488440; E-mail: [email protected].
Abstract: 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.
