Wiedemann-Beckwith syndrome (WBS) is a heterogeneous overgrowth syndrome associated with malformations and an elevated risk of developing embryonal tumors. WBS is a multigenic disorder caused by dysregulation of imprinted growth regulatory genes within the 11p15 region. Elucidation of the genetic ca
Two pairs of male monozygotic twins discordant for Wiedemann-Beckwith syndrome
β Scribed by Leonard, N. J.; Bernier, F. P.; Rudd, N.; Machin, G. A.; Bamforth, F.; Bamforth, S.; Grundy, P.; Johnson, C.
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 20 KB
- Volume
- 61
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19960122)61:3<253::aid-ajmg9>3.0.co;2-v
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β¦ Synopsis
Wiedemann-Beckwith syndrome (WBS) is a congenital anomaly syndrome which classically consists of exomphalos, macroglossia, and gigantism. The syndrome is also associated with a variety of minor anomalies and affected individuals have an increased risk of developing rare embryonal cell tumors. To date, 15 monozygotic (MZ) twin pairs have been reported of which 13 are discordant for WBS. All except one pair of the discordant WBS twin pairs have been female. We report two pairs of male MZ twins, each discordant for WBS.
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