Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications

Am J Hum Genet. 1994 May;54(5):748-56.


Twenty-seven cases of inverted duplications of chromosome 15 (inv dup [15]) were investigated by FISH with two DNA probes specific for the Prader-Willi syndrome/Angelman syndrome (PWS/AS) region on proximal 15q. Sixteen of the marker chromosomes displayed two copies of each probe, while in the remaining 11 markers no hybridization was observed. A significant association was found between the presence of this region and an abnormal phenotype (P < .01). This is the largest study to date of inv dup(15) chromosomes, that uses molecular cytogenetic methods and is the first to report a significant association between the presence of a specific chromosomal region in such markers and an abnormal phenotype.

MeSH terms

  • Adolescent
  • Adult
  • Angelman Syndrome / diagnosis
  • Angelman Syndrome / genetics*
  • Cell Line
  • Child
  • Child, Preschool
  • Chromosome Banding
  • Chromosome Inversion*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 15*
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Infant, Newborn
  • Karyotyping
  • Male
  • Phenotype
  • Prader-Willi Syndrome / diagnosis
  • Prader-Willi Syndrome / genetics*
  • Pregnancy
  • Prenatal Diagnosis