Evaluation of Karyotype Composition of Our Turner Syndrome Patients with Their Application Complaints and Anthropometric
Yükleniyor...
Dosyalar
Tarih
2018
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Duzce Univ
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Objective: 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. 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. Method: DNA was isolated from the peripheral blood samples and chromosome analysis were performed in the patients who were thoought to be Turner Syndrome at Duzce University Medical Faculty Medical Genetics Department. Twenty patients who were compatible with Turner's syndrome were included in the study. The complaints, height, weight, BMI (body mass index) values of each case included in the study were noted. Results: 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. Conclusion: Patients with TS show different karyotype compositions, which cause different clinical manifestations in patients. The "45, X" karyotype was found to be significantly higher than other chromosomal compositions, and the most common complaint in our patient group was short stature of 60%. Karyotype analysis is important for early diagnosis and early treatment in patients being followed up with short stature etiology. Patients should be followed up with a multidisciplinary team approach on a regular basis
Açıklama
WOS: 000441304600021
Anahtar Kelimeler
Monosomy X, Mosaic Turner Syndrome, Lsochromosome X, Infertility
Kaynak
Konuralp Tip Dergisi
WoS Q Değeri
N/A
Scopus Q Değeri
Cilt
10
Sayı
2
