Journal of Reproduction & Infertility

Journal of Reproduction & Infertility

A Robertsonian Translocation rob (14;15) (q10:q10) in a Patient with Recurrent Abortions: A Case Report

Authors
Ananthapur Venkateshwari 1
Avvari Srilekha 1
Tella Sunitha 1
Nallari Pratibha 2
Akka Jyothy 1
1 Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, India
2 Department of Genetics, Osmania University, Hyderabad, India
Abstract
Introduction: Robertsonian translocation is one of the major chromosomal rearrangements with a prevalence rate of 0.1% of the general population and 1% of the infertile population. In this report, we present a nonhomologous Robertsonian translocation in a female patient with a history of repeated abortions. Case Presentation: A couple with the complaint of repeated abortions was admitted in the Institute of Genetics and Hospital for Genetic Diseases in Begumpet, Hyderabad, India for cytogenetic evaluation. Chromosomal analysis of the couple revealed an abnormal karyotype in the female partner with 45, XX, rob (14, 15) (q10; q10) chromosomal constitution, while the male partner showed normal 46, XY karyotype. Conclusion: The cytogenetic analysis of couples with repeated abortions is mandatory to identify any probable chromosomal aberrations. Prenatal diagnosis should be offered to couples with repeated abortions in the case of future pregnancies.
Keywords
Chromosomal Aberration
Cytogenetic analysis
Genetic counseling
Recurrent abortion
Robertsonian translocations
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Journal of Reproduction & Infertility
Volume 11, Issue 3
Autumn 2010
Pages 197-200