Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX
Abstract 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...
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| Format: | Article |
| Language: | English |
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Nature Publishing Group
2024-08-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-024-00289-6 |
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| _version_ | 1832594932337999872 |
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| author | Keiko Shimojima Yamamoto Sakurako Yamamoto Taichi Imaizumi Satoko Kumada Toshiyuki Yamamoto |
| author_facet | Keiko Shimojima Yamamoto Sakurako Yamamoto Taichi Imaizumi Satoko Kumada Toshiyuki Yamamoto |
| author_sort | Keiko Shimojima Yamamoto |
| collection | DOAJ |
| description | Abstract 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. |
| format | Article |
| id | doaj-art-c45cff0547904beb86b47c8556681b6d |
| institution | Kabale University |
| issn | 2054-345X |
| language | English |
| publishDate | 2024-08-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj-art-c45cff0547904beb86b47c8556681b6d2025-01-19T12:15:55ZengNature Publishing GroupHuman Genome Variation2054-345X2024-08-011111510.1038/s41439-024-00289-6Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXXKeiko Shimojima Yamamoto0Sakurako Yamamoto1Taichi Imaizumi2Satoko Kumada3Toshiyuki Yamamoto4Department of Transfusion Medicine and Cell Processing, Tokyo Women’s Medical UniversityDepartment of Neuropediatrics, Tokyo Metropolitan Neurological HospitalDepartment of Pediatrics, St. Marianna University School of MedicineDepartment of Neuropediatrics, Tokyo Metropolitan Neurological HospitalInstitute of Medical Genetics, Tokyo Women’s Medical UniversityAbstract 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.https://doi.org/10.1038/s41439-024-00289-6 |
| spellingShingle | Keiko Shimojima Yamamoto Sakurako Yamamoto Taichi Imaizumi Satoko Kumada Toshiyuki Yamamoto Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX Human Genome Variation |
| title | Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX |
| title_full | Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX |
| title_fullStr | Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX |
| title_full_unstemmed | Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX |
| title_short | Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX |
| title_sort | uniparental maternal tetrasomy x co occurrence with paternal nondisjunction investigation of the origin of 48 xxxx |
| url | https://doi.org/10.1038/s41439-024-00289-6 |
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