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

Abstract

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.