التفاصيل البيبلوغرافية
| العنوان: |
A rare of Turner syndrome with a special karyotype: a case report |
| المؤلفون: |
W.D. Huang, M. Pang, Q.Z. Zhao, X.P. Wang, J. Wang, Y. Mao, L.Y. Kong, B. Liang |
| المصدر: |
Clinical and Experimental Obstetrics & Gynecology, Vol 47, Iss 1, Pp 129-131 (2020) |
| بيانات النشر: |
IMR Press, 2020. |
| سنة النشر: |
2020 |
| المجموعة: |
LCC:Gynecology and obstetrics |
| مصطلحات موضوعية: |
primary amenorrhea, turner syndrome, karyotype, mosaic isochromosome xq, autoimmune hypothyroidism, Gynecology and obstetrics, RG1-991 |
| الوصف: |
Turner syndrome (TS) is a gonadal dysgenesis caused by absence or structural abnormalities of sex chromosome. Isochromosome Mosaic TS is a structurally abnormal X chromosome consisting of either two short or two long arms, with only an 8-9% prevalence among women with TS based on international studies. The present report describes a 30-year-old female with isochromosome mosaic karyotype TS. The patient had no menarche so far. G-banding chromosome analysis indicated mosaic 45, X[3]/46, X, i(X) (q10)[79]/47, X, i(X)(q10), i(X)(q10), i(X)(q10)[3]/49, X, i(X)(q10), i(X)(q10), i(X)(q10), i(X)(q10)[79]. Both clinical and cytogenetic investigations proved this patient to be a special isochromosome Xq Mosaic TS with autoimmune hypothyroidism and hyperlipidemia. |
| نوع الوثيقة: |
article |
| وصف الملف: |
electronic resource |
| اللغة: |
English |
| تدمد: |
0390-6663 |
| Relation: |
https://www.imrpress.com/journal/CEOG/47/1/10.31083/j.ceog.2020.01.4982; https://doaj.org/toc/0390-6663 |
| DOI: |
10.31083/j.ceog.2020.01.4982 |
| URL الوصول: |
https://doaj.org/article/2fb745a631f24e93af22b37227cf7e93 |
| رقم الانضمام: |
edsdoj.2fb745a631f24e93af22b37227cf7e93 |
| قاعدة البيانات: |
Directory of Open Access Journals |