A 12-year-old girl was examined for growth retardation and a few very discrete dysmorphologic stigmata of Turner's syndrome; the genitalia were infantile yet both ovaries possessed functioning follicles. R- and C-banding techniques and Brdu treatment demonstrated a 45,X formula in 95% of lymphocytes
Secondary amenorrhea associated with 46,X,der(X)t(X;X)(p22;p22)
β Scribed by Naeimeh Tayebi; Hossain Khodaei
- Book ID
- 116920661
- Publisher
- Elsevier Science
- Year
- 2011
- Tongue
- English
- Weight
- 151 KB
- Volume
- 50
- Category
- Article
- ISSN
- 1028-4559
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An 11-year-old girl with karyotype 45,X/46,X,dic(X) (Xqter leads to p22::p22 leads to qter) is presented. The abnormal X is always found to be the inactive and late replicating X, and according to previous investigations by Therman et al. (1974) part of the cells are seen to have bipartite Barr bodi
Cytogenetic studies on a woman with primary amenorrhea showed an X;15 translocation, karyotype 46,X,t(X; 15)(q2 1 ;q23). Fifteen percent of the buccal cells showed a normal-sized sex chromatin body. The normal X chromosome was uniforrniy inactivated. Many baianced X; 15 translocations have been repo