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Turner sendromu olgularında karyotipik dağılım

Karyotypic distribution of turner's syndrome cases

Journal Name:

  • Selçuk Tıp Dergisi

Publication Year:

  • 2002

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Keywords (Original Language):

Author NameUniversity of Author
Abstract (2. Language): 
Cytogenetic analysis of 37 patients, who were referred to our laboratory because of primary amenorrhea ,growîh reîardation 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 vvith 45,X/46,X,i(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 vvith 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 cenîers values.On the other hand 45,X/46,X karyotype vvhich was reported from other centers often was determined in only one case in our study group.
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Abstract (Original Language): 
Turner sendromu bulguları, primer amenore veya gelişme geriliği şikayetiyle laboratuvanmıza başvuran 37 olguda siîogeneîik 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,İ(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.
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