Partial trisomy 9 : clinical and cytogenetic correlations

Ann Genet. 1979;22(4):199-204.

Abstract

A study of three new cases with different trisomies involving chromosome 9 and a review of about 100 cases of partial trisomy 9 reported in the literature, suggested some cytogenetical and clinical correlations and lead us to propose the nomenclature of Rethore's syndrome type 1 and type 2.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Child
  • Chromosome Banding
  • Chromosomes, Human, 6-12 and X*
  • Face / abnormalities
  • Female
  • Hand Deformities, Congenital
  • Humans
  • Hydrocephalus / genetics
  • Intellectual Disability / genetics
  • Male
  • Trisomy*