Avvari Srilekha, Akka Jyothy, Madireddi Sujatha, Pratibha Nallari, Ananthapur Venkateshwari, An Inherited Balanced Translocation Between Chromosomes 4 and 6 in Recurrent Pregnancy Loss: A Case Report, Journal of Family Medicine, Volume 1, Issue 3, 2019, Pages 10-14, ISSN 2640-690X, https://doi.org/10.14302/issn.2640-690X.jfm-19-2767.
(https://www.ijn-medicalarticles.info/family-medicine/article/an-inherited-balanced-translocation-between-chromosomes-4-and-6-in-recurrent-pregnancy-loss-a-case-report-1099)
Abstract: Recurrent pregnancy loss is an important reproductive issue with a heterogeneous etiology where two or more consecutive abortions occur before 20 weeks of gestation. Approximately 15% of all clinically recognized pregnancies result in miscarriage with an incidence of 1 in 300 cases. Couples, who experience repeated pregnancy loss before three months of gestation, mostly have fetuses with chromosomal aneuploids. A non-consanguineous couple with a married life of 4 years was referred to the Institute with a clinical history of three first trimester abortions. Karyotype analysis revealed a balanced autosomal translocation between chromosomes 4 and 6 with 46, XX, t (4;6)(q35; q22) karyotype in the female and normal 46, XY in the male partner. Therefore, the siblings and the couple were suggested for extended genetic counseling. Interestingly, a similar translocation was seen in her father and three sisters, whereas her mother and elder sister showed a normal chromosomal constitution, indicating the paternal inheritance.
Keywords: Recurrent pregnancy loss; Karyotype; Balanced autosomal translocation; Unbalanced chromosomal rearrangement.