Beckwith-Wiedemann syndrome in a child with chromosome 18q deletion

J Med Genet. 1998 Feb;35(2):162-4. doi: 10.1136/jmg.35.2.162.

Abstract

Molecular genetic investigation of a female infant with Beckwith-Wiedemann syndrome (BWS) showed loss of IGF2 imprinting but no evidence of uniparental disomy. In addition, a deletion of chromosome 18q22.1 was identified in this infant without clinical features of 18q-syndrome (microcephaly, short stature, hypotonia). The association of a chromosome 18 deletion and BWS may be coincidental or may indicate the location of a trans activating regulator element for maintenance of IGF2 imprinting.

Publication types

  • Case Reports

MeSH terms

  • Beckwith-Wiedemann Syndrome / genetics*
  • Beckwith-Wiedemann Syndrome / physiopathology
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 18 / genetics*
  • Ear, External / abnormalities
  • Facial Neoplasms / genetics
  • Female
  • Genomic Imprinting
  • Hemangioma, Capillary / genetics
  • Hernia, Umbilical / genetics
  • Humans
  • Infant, Newborn
  • Infant, Premature
  • Insulin-Like Growth Factor II / genetics*
  • Insulin-Like Growth Factor II / physiology
  • Karyotyping
  • Macroglossia / genetics
  • Male
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Pregnancy
  • Pregnancy Complications

Substances

  • Insulin-Like Growth Factor II