An isochromosome of the short arms of the no. 18 chromosome in a mentally retarded girl

Clin Genet. 1976 Feb;9(2):192-6. doi: 10.1111/j.1399-0004.1976.tb01567.x.

Abstract

A 2.5-year-old girl with several congenital anomalies is described. Chromosomal analysis suggests the presence of a small extra metacentric chromosome which was identified as isochromosome 18p by means of R-banding and C-banding.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chromosome Aberrations*
  • Chromosomes, Human, 19-20*
  • Dermatoglyphics
  • Female
  • Humans
  • Intellectual Disability / genetics*
  • Karyotyping