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Turner Syndrome: A Unique Mosaic Case with 45,X/47,XX,+21/46,XX Cell Lines

التفاصيل البيبلوغرافية
العنوان: Turner Syndrome: A Unique Mosaic Case with 45,X/47,XX,+21/46,XX Cell Lines
المؤلفون: Mirela Mačkić-Đurović, Meliha Stomornjak-Vukadin, Slavka Ibrulj
المصدر: Iranian Journal of Medical Sciences, Vol 43, Iss 4, Pp 436-439 (2018)
بيانات النشر: Shiraz University of Medical Sciences, 2018.
سنة النشر: 2018
المجموعة: LCC:Medicine (General)
مصطلحات موضوعية: Turner syndrome, Down syndrome, Mosaicism, In situ hybridization, Fluorescence, Medicine (General), R5-920
الوصف: We report an extremely rare case of Turner syndrome mosaicism in a 30-year-old woman. At least 100 metaphases were observed and analyzed through GTG banding with over 550 band resolutions observed. G-banded chromosome analysis revealed a mosaic female karyotype involving 3 different cell lines. One cell line (90% of the analyzed metaphases) presented monosomy X, while 6% of the cells showed trisomy of chromosome 21 and 4% of the cells exhibited a normal female karyotype. Fluorescence in situ hybridization with a locus-specific probe for trisomy 21 and CEP X for monosomy X substantiated the results obtained from karyotyping. Our patient had 2 natural pregnancies, both of which produced children with Down syndrome. In our patient, as is the case with other women with infertility, the necessary routine is cytogenetic analysis (together with genetic counseling). The same analysis can be helpful in implementing assisted reproductive techniques.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 0253-0716
1735-3688
العلاقة: http://ijms.sums.ac.ir/index.php/IJMS/article/view/3809Test; https://doaj.org/toc/0253-0716Test; https://doaj.org/toc/1735-3688Test
الوصول الحر: https://doaj.org/article/4c276c2e99ed4d289c1f279e2465d751Test
رقم الانضمام: edsdoj.4c276c2e99ed4d289c1f279e2465d751
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:02530716
17353688