Complex chromosome rearrangement in a girl with an incomplete form of Beckwith-Wiedemann syndrome

Am J Med Genet. 2000 Dec 18;95(5):510-2. doi: 10.1002/1096-8628(20001218)95:5<510::aid-ajmg18>3.0.co;2-v.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adrenocortical Adenoma / pathology
  • Adult
  • Beckwith-Wiedemann Syndrome / diagnosis
  • Beckwith-Wiedemann Syndrome / genetics*
  • Beckwith-Wiedemann Syndrome / surgery
  • Child, Preschool
  • Chromosome Banding
  • Chromosomes, Human, Pair 11 / genetics
  • Chromosomes, Human, Pair 12 / genetics*
  • Chromosomes, Human, Pair 2 / genetics*
  • Chromosomes, Human, Pair 6 / genetics*
  • Female
  • Gene Rearrangement / genetics*
  • Haplotypes
  • Humans
  • Insulin-Like Growth Factor I / genetics
  • Insulin-Like Growth Factor II / genetics
  • Microsatellite Repeats
  • Pedigree
  • Postoperative Complications
  • Translocation, Genetic
  • Trisomy / genetics

Substances

  • Insulin-Like Growth Factor I
  • Insulin-Like Growth Factor II