Related Experiment Videos
Fetal death associated with a t(1;14) in three generations.
P J Barratt1, R C Juberg, M A Fritz
1Department of Obstetrics and Gynecology, Wright State University, Dayton, OH 45409.
American Journal of Medical Genetics. Supplement
|January 1, 1987
Summary
Parental chromosome studies can identify causes of recurrent fetal death. A father with a t(1;14) translocation, identified after four miscarriages, impacted three generations, aiding genetic counseling.
Area of Science:
- Genetics
- Reproductive Medicine
- Cytogenetics
Background:
- Recurrent fetal death necessitates etiological investigation.
- Parental chromosomal abnormalities are a significant cause of spontaneous abortions.
- Cytogenetic analysis aids in understanding reproductive challenges.
Observation:
- A couple experienced four consecutive spontaneous abortions.
- Genetic analysis revealed the father carried a balanced translocation, specifically t(1;14).
- This translocation was present in other family members across three generations.
Findings:
- The identified paternal t(1;14) translocation is linked to recurrent fetal death in this family.
- The translocation was detected in multiple relatives, including adults, a liveborn child, and a fetus.
- This confirms the hereditary nature of the chromosomal abnormality.
Implications:
- Identifying translocations provides a basis for genetic counseling for affected couples.
- Carrier detection and prenatal diagnosis are crucial for managing families with translocation.
- Understanding chromosomal causes of fetal death improves reproductive outcomes.