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Case Reports
. 2012 Jul;29(7):651-6.
doi: 10.1007/s10815-012-9756-4. Epub 2012 Apr 4.

A novel chromosomal translocation and heteromorphism in a female with recurrent pregnancy loss--a case study

Venkateshwari Ananthapur  1 , Srilekha Avvari, Vinod Cingeetham, Sujatha Maddireddi, Pratibha Nallari, Jyothy Akka
Affiliations
Case Reports

A novel chromosomal translocation and heteromorphism in a female with recurrent pregnancy loss--a case study

Venkateshwari Ananthapur et al. J Assist Reprod Genet. 2012 Jul.

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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Figures

Fig. 1
Fig. 1
Karyotype of the female partner with 46, XX, t(12;13) (q13;q33) + 15pstk + chromosomal constitution
Fig. 2
Fig. 2
Karyotype of the father of female partner with 46, XY, t(12;13) (q13;q33) chromosomal constitution
Fig. 3
Fig. 3
Karyotype of the mother of female partner with 46, XX + 15pstk + chromosomal constitution
Fig. 4
Fig. 4
Spectral karyotype of the female partner of the couple with balanced reciprocal translocation and 15 pstk+
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