Pathological findings in the complete trisomy 9 syndrome: three case reports and review of the literature

Pediatr Dev Pathol. 2008 Jan-Feb;11(1):23-9. doi: 10.2350/06-08-0143.1.

Abstract

The term "complete trisomy 9" is used to indicate trisomy of the entire chromosome 9 without evidence of mosaicisms. It is a relatively rare chromosomal abnormality because the vast majority of affected pregnancies result in 1st trimester spontaneous abortions. The purpose of this paper is to delineate the complete trisomy 9 syndrome, based on autopsy findings. We performed an exhaustive review of the literature of complete forms of this trisomy with autopsy examination and added 3 new cases from our center with new findings not previously described.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Adult
  • Amniocentesis
  • Autopsy
  • Chromosome Disorders / diagnosis
  • Chromosome Disorders / pathology*
  • Chromosomes, Human, Pair 9*
  • Fatal Outcome
  • Female
  • Fetal Diseases / diagnosis
  • Fetal Diseases / pathology*
  • Gestational Age
  • Humans
  • Male
  • Pregnancy
  • Trisomy / genetics
  • Trisomy / pathology*