Robertsonian (15q;15q) translocation in a child with Angelman syndrome: evidence of uniparental disomy

Am J Med Genet. 1996 Dec 30;66(4):426-8. doi: 10.1002/(SICI)1096-8628(19961230)66:4<426::AID-AJMG7>3.0.CO;2-I.


A balanced Robertsonian translocation 45,XY,t(15q15q) was detected in a patient with mental retardation, microcephaly, and hypertonia. Deletion of the 15q11q13 region was unlikely based on fluorescence in situ hybridization studies that revealed hybridization of appropriate DNA probes to both arms of the Robertsonian chromosome. Inheritance of alleles from 13 highly polymorphic DNA markers on chromosome 15 showed paternal uniparental isodisomy. The clinical, cytogenetic, and molecular results are consistent with a diagnosis of Angelman syndrome.

Publication types

  • Case Reports

MeSH terms

  • Angelman Syndrome / genetics*
  • Child, Preschool
  • Chromosome Aberrations
  • Chromosomes, Human, Pair 15*
  • Humans
  • Karyotyping
  • Male
  • Microsatellite Repeats
  • Translocation, Genetic*