KARA, Murat Muğla Sıtkı Koçman Üniversitesi - Tıbbi Genetik Anabilim Dalı, Türkiye , KARGÜN, Kürşat Fırat Üniversitesi Hastanesi - Tıbbi Genetik Laboratuvarı, Türkiye , KÖSE, Halil Şanlıurfa Çocuk Hastalıkları Hastanesi - Çocuk Sağlığı ve Hastalıkları Kliniği, Türkiye , AYGÜN, Abdullah Denizmen Fırat Üniversitesi - Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Türkiye , ŞEN, Aşkın Ufuk Üniversitesi - Tıbbi Genetik Anabilim Dalı, Türkiye

Double Trisomy (48,XXX,+21) in an Child with Down Syndrome: A Case Report

17491

Double trisomy is the presence of two numerical chromosomal abnormalities together. Since the most cases result in spontaneous abortus this is a rare situation. It generally arises by non-disjunction at either the first or second meiotic division. Down syndrome that is known as Trisomy 21 is the most common chromosomal aneuploidy and also the most common genetic reason of mental retardation. The case was sent to our laboratuary of medical genetics because of clinical features of Down syndrome. Conventional cytogenetic techniques were performed for this case. The karyotypes of our case were found as 48, XXX+21. The karyotypes of the parents were normal. In this study, it is aimed to discuss a rare double trisomy case and to compare our results with previous studies.

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Double trisomy , Down syndrome , Non , disjunction

Fırat Medical Journal

129