Related Experiment Videos
The origin of 45,X males
American Journal of Human Genetics
|March 1, 1986
Summary
This study investigated males with a rare 45,X karyotype, finding evidence of Y-chromosomal material in one case. This suggests that low-level mosaicism may explain some instances of 45,X maleness.
Area of Science:
- Genetics
- Human Biology
Background:
- Maleness associated with a 45,X karyotype is a rare condition.
- The underlying cause for these cases has remained unexplained.
Observation:
- Two individuals with 45,X maleness were studied.
- One patient exhibited low-grade mosaicism (46,XY in <3% of fibroblasts).
- Y-specific DNA sequences were detected in this mosaic individual.
Findings:
- The mosaic 45,X male had Y-specific DNA sequences consistent with a 46,XY cell line.
- No Y-specific sequences were found in the non-mosaic 45,X male.
- The single X chromosome in both patients was maternally inherited.
Implications:
- Mosaicism is a potential explanation for some cases of 45,X maleness.
- This contrasts with XX males, where X-Y interchange is excluded here.
- Further research into Y-chromosomal material in 45,X males is warranted.