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.
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, heart anomalies, primary 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 caryotype 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 data with caryotype compositions for contribution to the literature.
Alan : Sağlık Bilimleri
Dergi Türü : Uluslararası
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