title: Novel balanced chromosomal translocations in females with recurrent spontaneous abortions: Two case studies.
abstract: Two couples with a history of recurrent pregnancy losses were referred to the Institute of Genetic Medicine and Genomic Science for cytogenetic evaluation. Chromosomal analysis of the phenotypically normal couples was done to investigate whether there are any new chromosomal abnormalities present in either of the couples caused recurrent pregnancy losses. Clinical and hormonal profile of the couples revealed normal parameters. The ultrasound scan of the females showed normal uterine and ovarian structures. Chromosomal analysis of the couples revealed normal 46, XY karyotypes in the both the male partners, and novel balanced reciprocal translocations 46, XX, t (5;8) (q35.3;q24.23) and 46, XX, t (4;13) (q12;q14) chromosomal constitutions in the female partners. Further, corroboration of the chromosome abnormalities was carried out by high resolution banding analysis. Unique and novel balanced reciprocal translocations were reported as an original investigation in two female partners from two different unrelated families both with the history of recurrent pregnancy losses.
authors.affiliation: Department of Human Genetics, Institute of Genetic Medicine and Genomic Sciences, Kolkata, West Bengal, India.
authors.forename: Puspal
authors.initials: P
authors.lastname: De
authors.affiliation: Department of Genetics, Institute of Genetic Engineering, Kolkata, West Bengal, India.
authors.forename: Sudipa
authors.initials: S
authors.lastname: Chakravarty
authors.affiliation: Department of Genetics, Institute of Genetic Engineering, Kolkata, West Bengal, India.
authors.forename: Amit
authors.initials: A
authors.lastname: Chakravarty
keywords: Balanced translocation; high-resolution banding analysis; recurrent pregnancy loss; t (4,13) (q12:q14); t (5;8) (q35.3:q24.23)