X-autosome translocations in amenorrhoea: a report of a three way translocation from Indian Population

• Published in: Gynecological endocrinology Vol. 30; no. 4; pp. 302 - 306
• Main Authors: Shetty, Dhanlaxmi L., Kadam, Akshay P., Koppaka, Neeraja T., Dalvi, Rupa C., Chavan, Deepak S., Das, Bibu R., Mandava, Swarna
• Format: Journal Article
• Language: English
• Published: England Informa UK Ltd 01.04.2014; Taylor & Francis
• Subjects: Adolescent; Adult; Amenorrhea - genetics; Chromosomes, Human, X; Female; Humans; India; Karyotyping; Premature ovarian failure; primary amenorrhoea; secondary ammenorrhoea; Translocation, Genetic; X-autosomal translocation; Young Adult; India
• ISSN: 0951-3590; 1473-0766
• DOI: 10.3109/09513590.2013.876000

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.