Cytogenetic and clinic evaluation of two cases that have 45,X/46,X,i(Xq) and 46,X,i(Xq) karyotype

Abstract

In this study, cytogenetic and clinic findings of 46,X,i(Xq) and 45,X/46,X,i(Xq) which are the rare types of Turner syndrome are evaluated. Two patients were directed to the Cytogenetic Laboratory from Gynecology Clinic with chromosomal anomaly indication. Their peripheric blood samples are analyzed karyotypically using Giemsa-Tripsin Bantama method. Case 1. The patient is 17 years old, has short height, a low-posterior hairline, short neck, small and wide apart breasts, normal external genitals and underdeveloped internal genitals. Her karyotype was 45,X/46,X,i(Xq). Case 2. The patient is 19 years old, has primer amenore, short height, a low-posterior hairline, wide apart and underdeveloped breasts, normal external genitals, underdeveloped uterus, obscure ovarium. Her karyotype was determined to be 46,X,i(Xq). Although symptoms progress slightly weaker, our 45,X/46,X,i(Xq) and 46,X,i(Xq) cases, which are rare types of Turner Syndrome, are generally consistent with phenotypic findings of Turner syndrome. J Clin Exp Invest 2014; 5 (3): 444-448

Keywords

• Turner syndrome, 45,X/46,XY, 46,X,i(Xq), mosaisizm

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

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

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