Mental retardation and congenital malformations associated with a ring chromosome 6

Clin Genet. 1975 Mar;7(3):192-6. doi: 10.1111/j.1399-0004.1975.tb00318.x.

Abstract

A boy, in whom a ring chromosome 6 was found, presented with mental retardation and odd facies. He had a small head, bilateral epicanthus, broad nasal bridge, low set prominent ears, short neck and clasped thumbs. The ring chromosome was identified by the ASG banding technique.

MeSH terms

  • Abnormalities, Multiple*
  • Child, Preschool
  • Chromosomes, Human, 6-12 and X*
  • Dermatoglyphics
  • Facial Expression*
  • Humans
  • Intellectual Disability / genetics*
  • Karyotyping
  • Male