Trisomy of the short arm of chromosome 5: autopsy data in a malformed newborn with inv dup (5) (p13.1----p15.3)

Clin Genet. 1987 Jul;32(1):49-56. doi: 10.1111/j.1399-0004.1987.tb03323.x.


In this paper we report detailed autopsy data of a malformed male newborn with 5p trisomy due to a de novo inverted 5p duplication, inv dup (5)(p13.1----p15.3), and we compare these data with the findings in previous reports on 5p trisomy. Cerebral malformations, i.e. agenesis of corpus callosum, and Dandy-Walker cyst malformations, seem to be another characteristic finding in this partial autosomal duplication syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Agenesis of Corpus Callosum*
  • Chromosome Aberrations / genetics*
  • Chromosome Aberrations / pathology
  • Chromosome Disorders
  • Chromosome Inversion*
  • Chromosomes, Human, Pair 5 / ultrastructure*
  • Dandy-Walker Syndrome / genetics*
  • Dandy-Walker Syndrome / pathology
  • Heart Septal Defects, Ventricular / genetics
  • Humans
  • Hydrocephalus / genetics*
  • Infant, Newborn
  • Male
  • Trisomy*
  • Viscera / abnormalities