Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX
Tetrasomy X or 48,XXXX is a rare sex chromosome aneuploidy. The parental origin of tetrasomy X in a female patient with developmental delay was analyzed; all four X chromosomes were derived from the mother, and there were no paternally derived sex chromosomes. This finding indicates a rare incidental co-occurrence of maternal and paternal nondisjunction or polysomy rescue. The mechanism of 48,XXYY, which is related to developmental delay in males, was analyzed for comparison.
Authors
- Satoko Kumada (ORCID: https://orcid.org/0000-0002-9687-7151)
- Taichi Imaizumi
- Toshiyuki Yamamoto (ORCID: https://orcid.org/0000-0002-9484-3505)
- Keiko Shimojima Yamamoto (ORCID: https://orcid.org/0000-0003-2362-3844)
- Sakurako Yamamoto
Institutions
- St. Marianna University School of Medicine (JP)
- Tokyo Metropolitan Neurological Hospital (JP)
- Tokyo Women's Medical University (JP)
Publication Details
- Journal
- Human Genome Variation
- Published
- 2024-08-16
- DOI
- https://doi.org/10.1038/s41439-024-00289-6
- Citations
- 1
- Primary Topic
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.55
Funders
- Japan Agency for Medical Research and Development
- Japan Society for the Promotion of Science