X-autosome translocations in amenorrhoea: a report of a three way translocation from Indian Population |
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Authors: | Dhanlaxmi L Shetty Akshay P Kadam Neeraja T Koppaka Rupa C Dalvi Deepak S Chavan Bibu R Das |
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Institution: | 1. Cytogenetic Division;2. Research and Development Division, SRL Diagnostics, Mumbai, Maharashtra, India |
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Abstract: | Chromosomal translocations have been reported in a number of women undergoing cytogenetic studies for amenorrhoea and gonadal dysgenesis. This study was taken up to emphasize the role of X chromosome and to know the frequency of X-autosomal translocations in women with amenorrhoea in Indian population. Cytogenetic analysis was carried out in 1567 subjects referred for amenorrhoea during the period 2002–2012. GTG-banding was performed from peripheral blood lymphocyte cultures to detect the chromosome abnormalities in all the cases. The karyotype results revealed 43.6% cases with chromosomal abnormalities (n?=?683 of 1567 cases). The X-autosomal translocations was found in 2.64% (n?=?18 of 683 cases). The common chromosomes involved with X were chromosomes 2, 4, 14 and 20. The translocations involved both p and q arms of the X chromosome.The break point “q26” of X was observed in the majority of the cases. Two interesting cases are discussed: one with three way translocation and another with two translocations. A high number of primary amenorrhoea (PA) and secondary amenorrhoea (SA) cases were involved in X-auto translocation which clearly reveals that chromosomal analysis plays an important role in the evaluation of amenorrhoea. |
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Keywords: | Premature ovarian failure primary amenorrhoea secondary ammenorrhoea X-autosomal translocation |
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