کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3478573 | 1233405 | 2015 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
An isodicentric X chromosome with gonadal dysgenesis in a lady without prominent somatic features of Turner's syndrome. A case report
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موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
پزشکی و دندانپزشکی (عمومی)
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چکیده انگلیسی
Isodicentric X chromosomes in general have phenotypes characteristic of the resultant X deletions. Gonadotropin levels in Turner's syndrome (TS) girls are high, but have a normal biphasic pattern. Here, we report a 21-year-old lady with primary amenorrhea. Clinical examination revealed a short neck but no other typical stigmata of Turner's syndrome. The levels of gonadotropin were not raised to post-menopausal levels. A chromosome study showed a 45,X/46,X,idic(X)(q22) karyotype. She was diagnosed as having Turner's syndrome.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of the Formosan Medical Association - Volume 114, Issue 1, January 2015, Pages 77–80
Journal: Journal of the Formosan Medical Association - Volume 114, Issue 1, January 2015, Pages 77–80
نویسندگان
Tse-Ya Yu, Huan-Sheng Lin, Pei-Lung Chen, Tien-Shang Huang,