Partial deletions and trisomies of chromosome 13; mapping of bands associated with particular malformations

Clin Genet. 1976 Jun;9(6):593-602. doi: 10.1111/j.1399-0004.1976.tb01618.x.

Abstract

New techniques of human karyotyping have allowed us to define accurately the banding pattern of six new cases with partial duplication of deficiency of chromosome 13. It now seems possible to draw a rough map of chromosome 13, correlating observed malformations and phenotypic features with specific chromosome regions. Partial monosomy shows clinical features which are the antithesis of the corresponding trisomic phenotype (Lejeune 1966).

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adolescent
  • Child
  • Child, Preschool
  • Chromosome Aberrations*
  • Chromosome Deletion*
  • Chromosome Mapping*
  • Chromosomes, Human, 13-15*
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Karyotyping / methods
  • Male
  • Trisomy*