Duplication within chromosome region 15q11-q13 in a patient with similarities to Prader-Willi syndrome confirmed by region-specific and band-specific fish

Genet Couns. 1999;10(2):123-32.

Abstract

We report on a patient presenting with mental retardation and obesity and a proximal duplication of chromosome 15. The patient shared some clinical signs with Prader-Willi syndrome. With a region-specific paint, generated by microdissection, a duplication in region 15q11.2-q13 was shown to be present. Subsequently, FISH with probes localized to chromosome region 15q11.2-q12 and microsatellite analysis was used to characterize this chromosome aberration further and an insertion duplication within the region frequently deleted in Prader-Willi and Angelman syndrome was demonstrated.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Child
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Chromosomes, Human, Pair 15 / genetics*
  • DNA Methylation
  • DNA Probes / genetics
  • Electrophoresis, Agar Gel
  • Gene Deletion
  • Gene Duplication*
  • Genetic Markers
  • Humans
  • In Situ Hybridization, Fluorescence / methods*
  • Karyotyping
  • Male
  • Microsatellite Repeats / genetics
  • Polymerase Chain Reaction
  • Prader-Willi Syndrome / genetics*

Substances

  • DNA Probes
  • Genetic Markers