© Kamla-Raj 2004                                                                           Int J Hum Genet, 4(1): 75-76 (2004)

Molecular Cytogenetic Evaluation of Xq Deletion Mosaicism in
a Case of Primary Amenorrhea

Babu Rao Vundinti , Lily Kerketta , Seema Korgaonkar,  Kanjaksha Ghosh and

Dipika Mohanty

Institute of Immunohaematology (ICMR) 13th floor, New Multistoryed Building,

K.E.M Hospital Campus, Parel, Mumbai 400 012, Maharashtra, India

KeyWords Sex chromosome; structural abnormalities; in situ hybridization; molecular cytogenetics

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 Fluorescence 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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