A rare balanced parental t (21q; 21q) Robertsonian translocation that results in Down syndrome in all viable pregnancies

Seneesh Kumar Vikraman, Vipin Chandra, Bijoy Balakrishanan, Meenu Batra, Rekha Kuriakose, Gopinathan Kannoly

Abstract


We report a case of a rare balanced Robertsonian translocation, t (21q; 21q) in one of the parents that results in adverse pregnancy outcome in 100 % of cases, either first trimester miscarriages or Down syndrome in all viable fetuses. The case highlights the role of optimum genetic evaluation of all cases of reproductive disorders as they can have profound effect over prognosis and further management.


Keywords


Robertsonian, Translocation, Karyotype, Down syndrome, Acrocentric

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References


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