A Familial Case of Robertsonian Translocation 13;14: Case Report

Robertsonian translocations are the most common form of chromosomal abnormalities that specifically involve the acrocentric chromosomes. Robertsonian translocation between chromosomes 13,14 and 14,21 are the most frequently reported. Infertility is common in genetically balanced carriers of these translocations, and their conceptions are more likely to have imbalances. Here we have reported a case of an 18-year-old female presenting with a complaint of primary amenorrhea. Cytogenetic analysis revealed a familial case of maternally inherited Robertsonian translocation (rob(13;14)(q10;q10)) affecting all the siblings. Genetic counseling and genetic testing are recommended especially in familial cases as the carriers are normal but can lead to several genetic disorders in their future generation.

Automated summary

This case report presents a familial case of Robertsonian translocation (rob(13;14)(q10;q10)) affecting all siblings in an 18-year-old female with primary amenorrhea. Genetic counseling and testing are recommended for carriers, as they may appear normal but can transmit several genetic disorders to future generations.