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.

Balanced autosomal translocation and double Robertsonian translocation in cases of primary amenorrhea in an Indian population.

OBJECTIVE: To assess the frequency of balanced autosomal translocations in patients with primary amenorrhea in an Indian population. METHODS: Cytogenetic analysis was carried out among women referred from all parts of India for primary amenorrhea between 2002 and 2010. Clinical history and laboratory findings were taken into consideration to determine the diagnosis. G-banding with trypsin-Giemsa was performed to detect chromosome abnormalities. RESULTS: There were 15 balanced autosomal translocations in 1100 patients. Two novel translocations were identified: 1 with mosaic pattern of X chromosome monosomy and male karyotype, together with balanced autosomal translocation of chromosomes 11 and 20 in both cell lines; and 1 with double Robertsonian translocation of chromosomes 14 and 21. CONCLUSION: Autosomal genes have a crucial role in reproductive development. More candidate genes need to be recognized for appropriate genetic counseling and clinical management.