Triplication of chromosome arm 20p due to inherited translocation and secondary nondisjunction

Am J Med Genet. 1979;4(1):47-50. doi: 10.1002/ajmg.1320040107.

Abstract

A patient with triplication of all of chromosome arm 20p is presented to illustrate the relatively modest degree of developmental delay that can result from autosomal triplication and the role of nondisjunction as a mechanism for deriving a partial triplication status.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Banding
  • Chromosomes, Human, 19-20*
  • Chromosomes, Human, 6-12 and X
  • Humans
  • Infant
  • Intellectual Disability / genetics*
  • Karyotyping
  • Male
  • Phenotype
  • Translocation, Genetic
  • Trisomy*