Two pairs of male monozygotic twins discordant for Wiedemann-Beckwith syndrome

Am J Med Genet. 1996 Jan 22;61(3):253-7. doi: 10.1002/(SICI)1096-8628(19960122)61:3<253::AID-AJMG9>3.0.CO;2-V.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Beckwith-Wiedemann Syndrome / diagnosis*
  • Beckwith-Wiedemann Syndrome / genetics
  • Chorion / anatomy & histology
  • Chorion / chemistry
  • Chromosome Aberrations
  • DNA / analysis
  • Female
  • Humans
  • Male
  • Twins, Monozygotic*

Substances

  • DNA