Abstract
The X chromosome contains determinants necessary to assure normal ovarian function and normal statural growth. Deletions of proportions of the X chromosome have been reported in a large number of patients, most which are isolated. We report a mosaic long arm deletion of X chromosome (Xq-) in a women with primary amenorrhea. Chromosomal analysis using GTG-banding showed two cell lines(45,X/46,X,del(X)). The Fluores- cence in situ hybridization study helped to detect the breakpoint at q13.3 region of the X chromosome and also enable to detect low grade third cell line with 47,XX,del(X)(q13.3) . Hence, molecular cytogenetic methods are essential to detect low level mosaicism which is important in better counselling .
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