Deletion involving D15S113 in a mother and son without Angelman syndrome: refinement of the Angelman syndrome critical deletion region

Am J Med Genet. 1995 Jan 2;55(1):120-6. doi: 10.1002/ajmg.1320550131.


Deletions of 15q11-q13 typically result in Angelman syndrome when inherited from the mother and Prader-Willi syndrome when inherited from the father. The critical deletion region for Angelman syndrome has recently been restricted by a report of an Angelman syndrome patient with a deletion spanning less than 200 kb around the D15S113 locus. We report here on a mother and son with a deletion of chromosome 15 that includes the D15S113 locus. The son has mild to moderate mental retardation and minor anomalies, while the mother has a borderline intellectual deficit and slightly downslanting palpebral fissures. Neither patient has the seizures, excessive laughter and hand clapping, ataxia or the facial anomalies which are characteristic of Angelman syndrome. The proximal boundary of the deletion in our patients lies between the D15S10 and the D15S113 loci. Our patients do not have Angelman syndrome, despite the deletion of the D15S113 marker. This suggests that the Angelman syndrome critical deletion region is now defined as the overlap between the deletion found in the previously reported Angelman syndrome patient and the region that is intact in our patients.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Angelman Syndrome / diagnosis
  • Angelman Syndrome / genetics*
  • Child
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 15*
  • Diagnosis, Differential
  • Face / abnormalities
  • Female
  • Genetic Markers / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Male


  • Genetic Markers