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

Basit Öğe Kaydı
dc.contributor.authorDoğan, Mustafa
dc.contributor.authorEröz, Recep
dc.contributor.authorBolu, Semih
dc.contributor.authorYüce, Hüseyin
dc.date.accessioned2020-05-01T12:15:31Z
dc.date.available2020-05-01T12:15:31Z
dc.date.issued2018
dc.departmentDÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.descriptionWOS: 000441304600021en_US
dc.description.abstractObjective: 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 basisen_US
dc.identifier.doi10.18521/ktd.414179en_US
dc.identifier.endpage252en_US
dc.identifier.issn1309-3878
dc.identifier.issue2en_US
dc.identifier.startpage248en_US
dc.identifier.urihttps://doi.org/10.18521/ktd.414179
dc.identifier.urihttps://hdl.handle.net/20.500.12684/6391
dc.identifier.volume10en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.language.isotren_US
dc.publisherDuzce Univen_US
dc.relation.ispartofKonuralp Tip Dergisien_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectMonosomy Xen_US
dc.subjectMosaic Turner Syndromeen_US
dc.subjectLsochromosome Xen_US
dc.subjectInfertilityen_US
dc.titleEvaluation of Karyotype Composition of Our Turner Syndrome Patients with Their Application Complaints and Anthropometricen_US
dc.typeArticleen_US

Dosyalar

Orijinal paket
Listeleniyor 1 - 1 / 1
Küçük Resim
İsim:
mustafa-dogan.pdf
Boyut:
622.65 KB
Biçim:
Adobe Portable Document Format
Açıklama:
Tam Metin / Full Text
İndir

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
Makale Koleksiyonu
TR-Dizin İndeksli Yayınlar Koleksiyonu