P704: Recurrent pregnancy loss in a consanguineous couple with three copies of the same balanced translocations
Abstract
The couple was contacted by a genetic counselor to review results, recurrence risks for family members, and reproductive risks for the couple. As the father is homozygous for the balanced translocation, mispairing of homologous chromosomes during gametogenesis would not be expected and all gametes will have a balanced translocation. As the female is heterozygous for the balanced translocation, she will have gametes that are either normal, balanced, or unbalanced depending on the segregation of the quadrivalent formation.
Fields of Study & Subjects
Reproductive System and Pregnancy
Genomic variations and chromosomal abnormalities
Prenatal Screening and Diagnostics
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 104194–104194
- Publication date
- 1 January 2026
- Language
- EN