Open AccessCytogenetic and clinical features of a 13 year old male with trisomy 8
Author(s) -
Mahmut Balkan,
Mehmet Fidanboy,
Cihan Akgül Özmen,
Mehmet Nuri Özbek,
Selçuk Otçu,
Emin Kapı,
Turgay Budak
Publication year - 2015
Publication title -
journal of pediatric genetics
Language(s) - English
Resource type - Journals
eISSN - 2146-4596
pISSN - 2146-460X
DOI - 10.3233/pge-2012-032
Subject(s) - trisomy , miscarriage , trisomy 8 , chromosomal abnormality , abnormality , karyotype , biology , aneuploidy , chromosome , genetics , medicine , pregnancy , psychiatry , gene
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.