45,X/46,X,i(Xq) ve 46,X,i(Xq) Karyotipi gösteren iki olgunun klinik ve sitogenetik yönden değerlendirilmesi

Etem Akbaş, Faik Gürkan Yazıcı, Hüseyin Durukan, Harika Topal, Nazan Eras Erdoğan
1.690 436

Öz


Bu çalışmada Turner sendromunun nadir görülen tiplerinden 45,X/46,X,i(Xq) ve 46,X,i(Xq) karyotipli iki olgunun sitogenetik ve klinik bulguları değerlendirilmiştir. Kadın Doğum ve Hastalıkları Kliniğinden kromozomal anomali endikasyonu ile Sitogenetik Laboratuvarına yönlendirilen iki hastadan alınan periferik kan örnekleri ile Giemsa-Tripsin Bantama yöntemi ile karyotipik inceleme yapıldı. Olgu 1. Hasta 17 yaşında, kısa boy, düşük saç çizgisi, kısa boyun, göğüsler küçük ve aralıklı, dış genitaller normal ancak iç genitallerde gelişme geriliği var. Hasta 45,X/46,X,i(Xq) karyotipindedir. Olgu 2. Hasta 19 yaşında, primer amenore, kısa boy, düşük saç çizgisi, göğüsler aralıklı ve az gelişmiş. Dış genitaller normal ancak rahim az gelişmiş, yumurtalıklar belirsiz. Hasta 46,X,i(Xq) karyotipindedir. 45,X/46,X,i(Xq) ve 46,X,i(Xq) karyotipli olgularımızın Turner sendromunun fenotipik bulgularıyla genel olarak örtüşmekle beraber semptom ve belirtilerin daha hafif seyrettiğini söyleyebiliriz.

Anahtar kelimeler


Turner sendromu, 46,X,i(Xq), mosaisizm

Tam metin:

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DOI: http://dx.doi.org/10.5799/ahinjs.01.2014.03.0436

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