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

Year 2018, , 248 - 252, 15.08.2018

Mustafa Dogan , Recep Eröz , Semih Bolu , Hüseyin Yüce

https://doi.org/10.18521/ktd.414179

Cited By: 1

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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