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Fırat Tıp Dergisi |
2013, Cilt 18, Sayı 2, Sayfa(lar) 126-129 |
[ Turkish ] [ Tam Metin ] [ PDF ] |
Double Trisomy (48,XXX,+21) in an Child with Down Syndrome: A Case Report |
Murat KARA1, Kürşat KARGÜN2, Halil KÖSE3, Abdullah Denizmen AYGÜN4, Aşkın ŞEN5 |
1Muğla Sıtkı Koçman Üniversitesi, Tıbbi Genetik Anabilim Dalı, Muğla, Türkiye 2Fırat Üniversitesi Hastanesi, Tıbbi Genetik Laboratuvarı, Elazığ, Türkiye 3Şanlıurfa Çocuk Hastalıkları Hastanesi, Çocuk Sağlığı ve Hastalıkları Kliniği, Şanlıurfa, Türkiye 4Fırat Üniversitesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Elazığ, Türkiye 5Ufuk Üniversitesi, Tıbbi Genetik Anabilim Dalı, Ankara, Türkiye |
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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