Beckwith–Wiedemann spectrum exhibiting a 46,XY karyotype caused by genome-wide paternal uniparental heterodisomy: a case report
Satoshi Hara, Tomohiko Sato, Osamu Shimokawa, Ritsuko Pooh, Yayoi Watanabe, Musashi Kubiura-Ichimaru, Hidenobu Soejima · 2026
Read Beckwith–Wiedemann spectrum exhibiting a 46,XY karyotype caused by genome-wide paternal uniparental heterodisomy: a case report by Satoshi Hara, Tomohiko Sato, Osamu Shimokawa, Ritsuko Pooh, Yayoi Watanabe, Musashi Kubiura-Ichimaru, Hidenobu Soejima (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/PMC13536565.txt.
Description
Satoshi Hara and colleagues report in 2026 a male infant with Beckwith-Wiedemann spectrum features caused by genome-wide paternal uniparental heterodisomy. In this rare state, chromosome copies come only from the father across the genome, usually with a female chromosome set. Methylation tests showed father-only patterns at many imprinted sites in this boy.
Gene checks found two distinct paternal genomes in blood cells, while other tissues held a normal mixed set, making the child a chimera. Array data confirmed one X and one Y chromosome in each cell type. Careful long-term follow-up is advised for unique signs.
Catalog record
| CREATOR | Satoshi Hara, Tomohiko Sato, Osamu Shimokawa, Ritsuko Pooh, Yayoi Watanabe, Musashi Kubiura-Ichimaru, Hidenobu Soejima |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 22616 |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |