Two pairs of male monozygotic twins discordant for Wiedemann-Beckwith syndrome.
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.
Leonard
N J
NJ
Department of Genetics, University of Calgary.
Bernier
F P
FP
Rudd
N
N
Machin
G A
GA
Bamforth
F
F
Bamforth
S
S
Grundy
P
P
Johnson
C
C
D000328:Adult; D001506:Beckwith-Wiedemann Syndrome / Q000175:diagnosis* / Q000235:genetics; D002823:Chorion / Q000033:anatomy & histology / Q000737:chemistry; D002869:Chromosome Aberrations; D004247:DNA / Q000032:analysis; D005260:Female; D006801:Humans; D008297:Male; D014430:Twins, Monozygotic
D004247:DNA