Murat KARA, KÜRŞAT KARGÜN, Halil KÖSE, Abdullah Denizmen AYGÜN, AŞKIN ŞEN

Double trizomiye (48,XXX,+21) sahip Down sendromlu bir çocuk: Olgu sunumu

Double trizomi, iki sayısal komozom anomalisinin birlikte bulunmasıdır. Bu olguların çoğu spontan düşükle sonuçlandığından nadir görülen bir durumdur. Double trizomi, genellikle ya birinci veya ikinci mayoz bölünme sırasında non-disjunction sonucu ortaya çıkar. Trizomi 21 olarakta bilinen Down sendromu, en yaygın kromozomal anöploidisi ve mental retardasyonun da en sık genetik nedenidir. Down sendromu ön tanısıyla laboratuarımı- za gönderilen olguya, konvansiyonel sitogenetik teknikler ile incelemesi yapıldı. Olgunun karyotipi, 48, XXX+21 olarak tespit edildi. Ailenin sitoge- netik incelemesi normaldi. Bu çalışmada nadir görülen double trizomi olgusunu tartışmayı ve daha önceki çalışmalarla sonuçlarımızı karşılaştırmayı amaçladık.

Double trisomy (48,XXX,+21) in an child with Down syndrome: A case report

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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