Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2

J Med Genet. 1991 May;28(5):342-4. doi: 10.1136/jmg.28.5.342.

Abstract

A patient with a phenotype resembling that of three children recently reported is described. His karyotype shows a pericentric inversion of chromosome 2, very similar to another child previously reported. We discuss the possibility that all these cases constitute a distinct syndrome.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Blepharoptosis / genetics*
  • Child
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Chromosome Inversion*
  • Chromosomes, Human, Pair 2*
  • Coloboma / genetics*
  • Female
  • Humans
  • Hypertelorism / genetics*
  • Infant
  • Intellectual Disability / genetics*
  • Iris / abnormalities*
  • Male
  • Syndrome