Trisomy 20p: case report and genetic review

J Genet Hum. 1985 Jan;33(1):67-75.

Abstract

Partial trisomy for the distal part of the short arm of chromosome 20 reported in a girl aged 11/2 years with typical craniofacial dysmorphies and psychomotor retardation. The trisomy resulted from a paternal translocation t(14;20) (q32.3;p11.1). The review of 25 cases of partial trisomy 20p showed that most cases (22 : 25) were due to parental translocations. Predominant involvement of small chromosomes in translocations with chromosome 20 was also detected.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosomes, Human, 13-15
  • Chromosomes, Human, 19-20*
  • Female
  • Humans
  • Infant
  • Karyotyping
  • Translocation, Genetic
  • Trisomy*