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

Authors

  • Seneesh Kumar Vikraman Department of Feto-Maternal Medicine, Division of Obstetrics & Gynaecology, CIMAR Edappal, Edappal Hospitals Pvt Ltd, Edappal, Malappuram-679576, Kerala, India
  • Vipin Chandra Department of Feto-Maternal Medicine, Division of Obstetrics & Gynaecology, CIMAR Edappal, Edappal Hospitals Pvt Ltd, Edappal, Malappuram-679576, Kerala, India
  • Bijoy Balakrishanan Department of Feto-Maternal Medicine, Division of Obstetrics & Gynaecology, CIMAR Edappal, Edappal Hospitals Pvt Ltd, Edappal, Malappuram-679576, Kerala, India
  • Meenu Batra Department of Feto-Maternal Medicine, Division of Obstetrics & Gynaecology, CIMAR Edappal, Edappal Hospitals Pvt Ltd, Edappal, Malappuram-679576, Kerala, India
  • Rekha Kuriakose Department of Feto-Maternal Medicine, Division of Obstetrics & Gynaecology, CIMAR Edappal, Edappal Hospitals Pvt Ltd, Edappal, Malappuram-679576, Kerala, India
  • Gopinathan Kannoly Department of Feto-Maternal Medicine, Division of Obstetrics & Gynaecology, CIMAR Edappal, Edappal Hospitals Pvt Ltd, Edappal, Malappuram-679576, Kerala, India

Keywords:

Robertsonian, Translocation, Karyotype, Down syndrome, Acrocentric

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.

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Published

2017-02-06

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Case Reports