Robertsonian and Balanced Reciprocal Translocation in Both Child and Mother with a History of Recurrent Abortions

Similar rare Robertsonian and balanced reciprocal translocation in both child and mother with a history of multiple miscarriages in the first trimester was the motive to write this case report. Cytogenetic analysis helps in genetic counselling of infertility, BOH and dysmorphology which in turn helps in pre implantation genetic testing. Although many case reports have already been published about Robertsonian and balanced translocations, this is the first case report in India which showed both types of translocation in the same patient, rob (13;14) and t (4;7). Interestingly, in the same patient, same translocations were also identified in the mother and father having no chromosomal abnormalities.

Proband with dysmorphology was refered first for karyotyping and later parental karyotyping was performed.

Cytogenetic analysis plays an important role in the diagnosis and management of disease along with prenatal screening.