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New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome.

Publication ,  Journal Article
Smith, AC; Rubin, T; Shuman, C; Estabrooks, L; Aylsworth, AS; McDonald, MT; Steele, L; Ray, PN; Weksberg, R
Published in: Cytogenet Genome Res
2006

Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome demonstrating heterogeneous molecular alterations of two imprinted domains on chromosome 11p15. The most common molecular alterations include loss of methylation at the proximal imprinting center, IC2, paternal uniparental disomy (UPD) of chromosome 11p15 and hypermethylation at the distal imprinting center, IC1. An increased incidence of female monozygotic twins discordant for BWS has been reported. The molecular basis for eleven such female twin pairs has been demonstrated to be a loss of methylation at IC2, whereas only one male monozygotic twin pair has been reported with this molecular defect. We report here two new pairs of male monozygotic twins. One pair is discordant for BWS; the affected twin exhibits paternal UPD for chromosome 11p15 whereas the unaffected twin does not. The second male twin pair is concordant for BWS and both twins of the pair demonstrate hypermethylation at IC1. Thus, this report expands the known molecular etiologies for BWS twins. Interestingly, these findings demonstrate a new epigenotype-phenotype correlation in BWS twins. That is, while female monozygotic twins with BWS are likely to show loss of imprinting at IC2, male monozygotic twins with BWS reflect the molecular heterogeneity seen in BWS singletons. These data underscore the need for molecular testing in BWS twins, especially in view of the known differences among 11p15 epigenotypes with respect to tumor risk.

Duke Scholars

Published In

Cytogenet Genome Res

DOI

EISSN

1424-859X

Publication Date

2006

Volume

113

Issue

1-4

Start / End Page

313 / 317

Location

Switzerland

Related Subject Headings

  • Twins, Monozygotic
  • Male
  • Humans
  • Genetics & Heredity
  • Female
  • Diseases in Twins
  • DNA Methylation
  • Cyclin-Dependent Kinase Inhibitor p57
  • Chromosomes, Human, Pair 11
  • Chromosome Mapping
 

Citation

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Smith, A. C., Rubin, T., Shuman, C., Estabrooks, L., Aylsworth, A. S., McDonald, M. T., … Weksberg, R. (2006). New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome. Cytogenet Genome Res, 113(1–4), 313–317. https://doi.org/10.1159/000090847
Smith, A. C., T. Rubin, C. Shuman, L. Estabrooks, A. S. Aylsworth, M. T. McDonald, L. Steele, P. N. Ray, and R. Weksberg. “New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome.Cytogenet Genome Res 113, no. 1–4 (2006): 313–17. https://doi.org/10.1159/000090847.
Smith AC, Rubin T, Shuman C, Estabrooks L, Aylsworth AS, McDonald MT, et al. New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome. Cytogenet Genome Res. 2006;113(1–4):313–7.
Smith, A. C., et al. “New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome.Cytogenet Genome Res, vol. 113, no. 1–4, 2006, pp. 313–17. Pubmed, doi:10.1159/000090847.
Smith AC, Rubin T, Shuman C, Estabrooks L, Aylsworth AS, McDonald MT, Steele L, Ray PN, Weksberg R. New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome. Cytogenet Genome Res. 2006;113(1–4):313–317.
Journal cover image

Published In

Cytogenet Genome Res

DOI

EISSN

1424-859X

Publication Date

2006

Volume

113

Issue

1-4

Start / End Page

313 / 317

Location

Switzerland

Related Subject Headings

  • Twins, Monozygotic
  • Male
  • Humans
  • Genetics & Heredity
  • Female
  • Diseases in Twins
  • DNA Methylation
  • Cyclin-Dependent Kinase Inhibitor p57
  • Chromosomes, Human, Pair 11
  • Chromosome Mapping