Turner Sendromlu Olgularımızın Karyotip Kompozisyonlarının Başvuru Şikayetleri ve Antropometrik Verileri ile Birlikte Değerlendirilmesi

Abstract

Turner sendromu (TS), kadınlarda ikinci X kromozomunun kısmi veya tam kaybı ya da X kromozomunun yapısal anomalileri sonucu oluşan ve boy kısalığı, lenfödem, kardiyak anomaliler, primer over yetmezliği ve nörokognitif problemler gibi klinik bulgular ile karakterize bir hastalıktır. Prevalansı 1/2000-1/2500 canlı dişi doğum olarak ortaya konmuştur. Hastaların TS tanısı almaları geniş yaş aralıklarında olabilmektedir. TS’lu hastalar farklı karyotip kompozisyonları göstermekte bu da hastalarda farklı klinik manifestasyonlara neden olmaktadır. Yaptığımız çalışmada sitogenetik analizi sonuçlarına göre 9 hastada 45,X (%45), 1 hastada 46,X,der(X),t(X,X)(p.11.2;q22)/45,X (%5), 1 hastada 45,X/46,X,del(X)(p.11.2) (%5), 1 hastada 45,X/47,XXX (%5), 4 hastada 45,X/46,XX (%20), 2 hastada 46,X,i(X)(q10)/45,X (%10), 1 hastada 46,X,i(X)(q10) (%5) ve 1 hastada 46,X,del(X)(p21) (%5) kromozomal kompozisyon tespit edildi. Turner sendromlu olgularımızın karyotip kompozisyonlarını, başvuru şikayetlerini, antropometrik verileriyle birlikte literatüre katkı amaçlı sunduk.

Keywords

• Turner sendromu,mozaik Turner sendromu,izokromozom X,infertilite

Evaluation of Karyotype Composition of Our Turner Syndrome Patients with Their Application Complaints and Anthropometric Data

Abstract

Turner syndrome (TS) is the result of partial or complete loss of the second X chromosome in women or structural anomalies of the X chromosome, and is characterized by clinical manifestations such as short stature, lymphedema, cardiac anomalies, primer over failure and neurocognitive problems. The prevalence is 1/2000-1/2500 live born female children. Patients with Turner syndrome can be diagnosed at a wide age of range. Patients with TS show different karyotype compositions, which cause different clinical manifestations in cases. According to the results of cytogenetic analysis in our study, it was detected that 9 patients were 45, X (45%), 1 patient was 46,X,der(X),t(X,X)(p.11.2;q22)/45,X (%5), 1 patient was 45,X/46,X,del(X)(p.11.2) (%5), 1 patient was 45,X/47,XXX (%5), 4 patients were 45,X/46,XX (%20), 2 patients were 46,X,i(X)(q10)/45,X (%10), 1 patient was 46,X,i(X)(q10) (%5),1 patient was 46,X,del(X)(p21) (%5) chromosomal composition. We have presented our patients with Turner syndrome together with the reasons for application complaints and anthropometric datas with karyotype compositions for contribution to the literature.

Keywords

• Monosomy X,Mosaic Turner Syndrome,Isochromosome X,infertility

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