Abstract
Purpose
To evaluate the clinical, biochemical and cytogenetic analyses of a couple with reproductive failure.
Methods
A couple with a history of recurrent pregnancy loss was referred to the Institute of Genetics for cytogenetic evaluation. Chromosomal analysis of the phenotypically normal parents was done to ascertain the role of chromosomal abnormalities and offer appropriate genetic counseling. Further, advanced karyotype analysis by spectral karyotyping was also carried out in the couple and parents of the female partner.
Results
Clinical and hormonal profile of the couple revealed normal phenotypes. The ultrasound scan of the female showed normal uterus and ovaries. Chromosomal analysis of the couple revealed a normal 46, XY karyotype in the male spouse, and a unique balanced reciprocal translocation 46, XX, t(12;13) (q13;q33) + 15pstk+ chromosomal constitution in the female partner. Cytogenetic analysis of her parents revealed a similar translocation between chromosomes 12 and 13 in the father and 15pstk+ in the mother. Further, corroboration of the chromosome abnormalities was carried out by spectral karyotyping.
Conclusion
A unique and novel familial transmission of paternally derived balanced reciprocal translocation and maternally derived heteromorphism in a female with the history of recurrent pregnancy loss was reported as an original investigation.
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Acknowledgements
Financial support from Department of Biotechnology, New Delhi is acknowledged for the financial assistance. Technical help provided by Dr. Michael Kohler in analyzing the spectral karyotype is also acknowledged.
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A unique and novel familial transmission of paternally derived balanced reciprocal translocation and maternally derived heteromorphism in a female was associated with the history of recurrent pregnancy loss.
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Ananthapur, V., Avvari, S., Cingeetham, V. et al. A novel chromosomal translocation and heteromorphism in a female with recurrent pregnancy loss—a case study. J Assist Reprod Genet 29, 651–656 (2012). https://doi.org/10.1007/s10815-012-9756-4
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DOI: https://doi.org/10.1007/s10815-012-9756-4