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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

Mahmut Balkan
a   Department of Medical Biology and Genetics, Medical Faculty, Dicle University, Diyarbakir, Turkey
,
Mehmet Fidanboy
a   Department of Medical Biology and Genetics, Medical Faculty, Dicle University, Diyarbakir, Turkey
,
Cihan Özmen
b   Department of Radiology, Medical Faculty, Dicle University, Diyarbakir, Turkey
,
M. Nuri Özbek
c   Department of Pediatrics, Medical Faculty, Dicle University, Diyarbakir, Turkey
,
Selçuk Otçu
d   Department of Pediatric Surgery, Medical Faculty, Dicle University, Diyarbakir, Turkey
,
Emin Kapı
e   Department of Plastic, Reconstructive, and Aesthetic Surgery, Medical Faculty, Dicle University, Diyarbakir, Turkey
,
Turgay Budak
a   Department of Medical Biology and Genetics, Medical Faculty, Dicle University, Diyarbakir, Turkey
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Publication History

14 November 2011

30 December 2011

Publication Date:
27 July 2015 (online)

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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