[Trisomy 20p derived from a maternal pericentric inversion and brachymesophalangy of the index finger]

Ann Genet. 1985;28(3):167-71.
[Article in French]


The article brings to light the very first case of trisomy 20p resulting from a maternal pericentric inversion in a 2 1/2-year old boy. The study outlines the characteristic clinical features of the syndrome, i.e. round face, upslanting palpebral fissures, microretrognathia, normal growth, slight psycho-motor retardation and congenital heart defects. The association of the der(20) inv(20) (p112q133) mat and brachymesophalangy of index ("Mohr-Wriedt" type of brachydactyly) enables the authors to suggest that chromosome 20 may be held responsible for this particular malformation.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Child, Preschool
  • Chromosome Inversion*
  • Chromosomes, Human, 19-20*
  • Fingers / abnormalities*
  • Humans
  • Karyotyping
  • Male
  • Pedigree
  • Phenotype
  • Toes / abnormalities
  • Trisomy*