Related Experiment Videos
Maternal 3;13 chromosome insertion, with severe pre-eclampsia
P A Boyd1, E J Maher, R H Lindenbaum
1Prenatal Diagnosis Unit, John Radcliffe Hospital, Headington, Oxford, UK.
Clinical Genetics
|January 1, 1995
Summary
Severe pre-eclampsia in a young mother was linked to a rare genetic condition, partial trisomy 13, in her infant. This genetic anomaly, inherited from the mother, may explain other family pregnancy losses.
Area of Science:
- Genetics
- Maternal-Fetal Medicine
- Reproductive Biology
Background:
- Pre-eclampsia is a severe pregnancy complication.
- Trisomy 13 (Patau syndrome) is a genetic disorder.
- Maternal genetic insertions can lead to chromosomal abnormalities.
Observation:
- A young primigravida experienced severe pre-eclampsia and premature delivery at 32 weeks.
- The infant exhibited growth retardation, dysmorphic features, and died at 4 days.
- Chromosome analysis revealed partial trisomy 13 due to maternal 13q into 3p insertion.
Findings:
- The maternal insertion was identified in three other family members.
- This insertion may be linked to recurrent pregnancy losses (abortions, stillbirths, neonatal deaths).
- This is the first reported case of partial trisomy 13q associated with pre-eclampsia.
Implications:
- Highlights a potential genetic cause for severe pre-eclampsia and recurrent pregnancy loss.
- Emphasizes the importance of genetic counseling for families with unexplained pregnancy complications.
- Suggests a possible link between specific chromosomal rearrangements and pregnancy outcomes.