Turner Sendromu Olgularında Karyotipik Dağılım
KaryotypIc DIstrIbutIon Of Turner's Syndrome Cases
Turner sendromu bulguları, primer amenore veya gelişme geriliği şikayetiyle laboratuvarımıza başvuran 37 olguda sitogenetik analizler yapılarak, X kromozom düzensizliklerinin dağılımı incelendi. Olgularımızın yaklaşık yarısını (%48.6) monozomi X oluşturuyordu. 16 olguda saptanan (%43.2) mozaik karyotiplerin dağılımı şöyle idi. Dokuz olguda 45,X/46,X,i(Xq); üç olguda 45,X/46X,r(X); bir olguda 45,X/46,X,+mar; bir olguda 45,X/46,XX/47,XXX; bir olguda 46,X,i(Xq)/47,X,i(Xq),i(Xq); bir olguda 45,X/46,XX. Mozaikler arasında gözlenen en yaygın karyotip olan 45,X/46,X,i(Xq)(%24.3) diğer merkezler tarafından bildirilen oranlardan hayli yüksekti. Ancak diğer merkezlerde sık görülen 45,X/46,XX karyotipi bizim grubumuzda sadece bir olguda saptandı.
Cytogenetic analysis of 37 patients, who were referred to our laboratory because of primary amenorrhea ,growth retardation and Turner's syndrome stigmata were performed and X chromosome abnormalities were evaluated. Monosomi X constituted approximately half of our patients(48,6%).Mosaic karyotypes were determined in 16 cases(43,2%) and they distributed like that; nine with 45,X/46,XJ(Xq), three with 45,X/46,X,r(Xq), one with 45,X/46,X,+mar,one with 45,X/46,XX/47,XXX,one with 45,X/47,X,i(Xq), i(Xq) and one with 45,X/46,X . 45,X/46,X,i(Xq) was the most common structural abnormality observed in mosaic cases and its ratio was found most frequent than other centers values.On the other hand 45,X/46,X karyotype which was reported from other centers often was determined in only one case in our study group.