Partial trisomy 20 (20q13) and partial trisomy 21 (21pter leads to 21q21.3)

J Med Genet. 1977 Dec;14(6):459-62. doi: 10.1136/jmg.14.6.459.

Abstract

A patient with a double partial trisomy 20 and 21 with mild mental retardation and multiple congenital anomalies is presented. Despite trisomy for a substantial portion of chromosome 21, the patient showed only minor stigmata compatible with Down syndrome.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adult
  • Child, Preschool
  • Chromosome Aberrations
  • Chromosomes, Human, 19-20*
  • Down Syndrome / complications*
  • Down Syndrome / genetics
  • Female
  • Humans
  • Infant
  • Karyotyping
  • Trisomy*