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

C M Brewer, W W Lam, C Hayward, E Grace, E R Maher, D R FitzPatrick

Research output: Contribution to journalArticlepeer-review

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.
Original languageEnglish
Pages (from-to)162-4
Number of pages3
JournalJournal of Medical Genetics
Volume35
Issue number2
Publication statusPublished - Feb 1998

Keywords

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

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