Author/Authors :
Poornima, Subhadra Department of Genetics and Molecular Medicine - Kamineni Hospitals - L.B. Nagar, Hyderabad, India , Daram, Swarnalatha Department of Genetics and Molecular Medicine - Kamineni Hospitals - L.B. Nagar, Hyderabad, India , Krishna, Rama Department of Biochemistry - Kamineni Academy of Medical Sciences and Research Centre, LB Nagar, Hyderabad, India , Hasan, Qurratulain Department of Genetics and Molecular Medicine - Kamineni Hospitals - L.B. Nagar, Hyderabad, India
Abstract :
Background: 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.
Case Presentation: Proband with dysmorphology was refered first for karyotyping
and later parental karyotyping was performed.
Conclusion: Cytogenetic analysis plays an important role in the diagnosis and management
of disease along with prenatal screening
Keywords :
Counselling , Culturing , Reciprocal translocation , Robertsonian translocation
