Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated

Am J Med Genet A. 2005 Jul 30;136(3):287-305. doi: 10.1002/ajmg.a.30483.


Uniparental disomy (UPD) describes the inheritance of a pair of chromosomes from only one parent. The concept was introduced in Medical Genetics by Engel (1980); Am J Med Genet 6:137-143. Aside UPD 15, which is the most frequent one, up to now (February 2005) 197 cases with whole chromosome maternal UPD other than 15 (124 X heterodisomy, 59 X isodisomy, and 14 cases without information of the mode of UPD) and 68 cases with whole chromosome paternal UPD other than 15 (13 X heterdisomy, 53 X isodisomy, and 2 cases without information of the mode of UPD) have been reported. In this review we discuss briefly the problems associated with UPD and provide a comprehensive clinical summary with a bibliography for each UPD other than 15 as a guide for genetic counseling.

Publication types

  • Bibliography

MeSH terms

  • Chromosome Disorders / genetics
  • Chromosome Disorders / pathology
  • Chromosomes, Human / genetics*
  • Chromosomes, Human, Pair 15 / genetics
  • Female
  • Genome, Human
  • Humans
  • Male
  • Models, Genetic
  • Phenotype
  • Review Literature as Topic
  • Uniparental Disomy*