Cytogenetic and clinical features of a 13 year old male with trisomy 8

Mahmut Balkan; Mehmet Fidanboy; Cihan Özmen; M. Nuri Özbek; Selçuk Otçu; Emin Kapı; Turgay Budak

doi:10.3233/PGE-2012-032

Journal of Pediatric Genetics, Table of Contents

J Pediatr Genet 2012; 01(03): 205-208
DOI: 10.3233/PGE-2012-032

Georg Thieme Verlag KG Stuttgart – New York

Cytogenetic and clinical features of a 13 year old male with trisomy 8

Authors

Mahmut Balkan

^aDepartment of Medical Biology and Genetics, Medical Faculty, Dicle University, Diyarbakir, Turkey
Mehmet Fidanboy

^aDepartment of Medical Biology and Genetics, Medical Faculty, Dicle University, Diyarbakir, Turkey
Cihan Özmen

^bDepartment of Radiology, Medical Faculty, Dicle University, Diyarbakir, Turkey
M. Nuri Özbek

^cDepartment of Pediatrics, Medical Faculty, Dicle University, Diyarbakir, Turkey
Selçuk Otçu

^dDepartment of Pediatric Surgery, Medical Faculty, Dicle University, Diyarbakir, Turkey
Emin Kapı

^eDepartment of Plastic, Reconstructive, and Aesthetic Surgery, Medical Faculty, Dicle University, Diyarbakir, Turkey
Turgay Budak

^aDepartment of Medical Biology and Genetics, Medical Faculty, Dicle University, Diyarbakir, Turkey

Subject Editor:

Abstract

PDF Download

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.

Keywords

Trisomy 8 - skeletal anomalies - restricted articular function - chromosome

PDF (326 kb)