Trisomy 20p due to a paternal reciprocal translocation

Ann Genet. 1983;26(2):94-7.


A mentally retarded boy with multiple malformations was found to have trisomy for the distal two-thirds of the short arm of chromosome 20 (trisomy 20p), resulting from a paternal translocation (5;20)(p15;p11). The patient had a cleft palate, a feature not present in other trisomy 20p patients. A review of the reported trisomy 20p patients indicates that their varied features do no constitute a readily recognizable clinical syndrome.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child, Preschool
  • Chromosome Banding
  • Chromosomes, Human, 19-20 / ultrastructure*
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Phenotype
  • Translocation, Genetic*
  • Trisomy*