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Triple trisomy in a 17-week-old fetus
1Department of Pediatrics, Bowman Gray School of Medicine, Wake Forest University Medical Center, Winston-Salem, NC 27103.
Human Genetics
|June 1, 1991
Summary
Triple trisomy, a rare chromosomal abnormality, is described in a fetus that experienced demise. This finding is exceptionally uncommon, with only two such cases documented in medical literature, highlighting its significance in miscarriage studies.
Area of Science:
- Genetics
- Reproductive Medicine
- Developmental Biology
Background:
- Autosomal trisomies are a leading cause of spontaneous miscarriages.
- Double autosomal trisomies are infrequently observed in abortuses.
- Chromosomal abnormalities significantly impact early pregnancy outcomes.
Purpose of the Study:
- To report the second documented case of triple autosomal trisomy in a miscarried fetus.
- To contribute to the understanding of rare chromosomal abnormalities in reproductive failure.
- To highlight the extreme end of chromosomal aberrations associated with fetal demise.
Main Methods:
- Case report of a spontaneous miscarriage.
- Karyotyping or chromosomal analysis of fetal tissue.
- Review of existing literature on multiple autosomal trisomies in abortuses.
Main Results:
- Identification of a fetus with triple autosomal trisomy.
- Confirmation of this as the second reported instance globally.
- Association of this rare condition with fetal demise.
Conclusions:
- Triple autosomal trisomy is an exceedingly rare event in spontaneous miscarriages.
- Such extreme chromosomal abnormalities are incompatible with fetal development.
- Further investigation into the mechanisms of multiple trisomy formation is warranted.