X-autosome translocations in amenorrhoea: a report of a three way translocation from Indian population.
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.
Cytogenetic Division and.
Dhanlaxmi L
DL
Shetty
Akshay P
AP
Kadam
Neeraja T
NT
Koppaka
Rupa C
RC
Dalvi
Deepak S
DS
Chavan
Bibu R
BR
Das
Swarna
S
Mandava
D000293:Adolescent; D000328:Adult; D000568:Amenorrhea / Q000235:genetics*; D041321:Chromosomes, Human, X; D005260:Female; D006801:Humans; D007194:India; D007621:Karyotyping; D014178:Translocation, Genetic; D055815:Young Adult