A hereditary bisatellite-dicentric supernumerary chromosome in a case of cat-eye syndrome

Hereditas. 1989;111(1):7-10. doi: 10.1111/j.1601-5223.1989.tb00369.x.

Abstract

We studied the clinical and cytogenetic features of a case of Cat-eye Syndrome. The chromosomal analysis showed 47 chromosomes. The supernumerary small, metacentric, bisatellited marker chromosome was probably derived from a No. 22 and occurred as well in the proband's sister and mother.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Aberrations*
  • Chromosome Disorders*
  • Chromosomes, Human, Pair 22*
  • Coloboma / genetics*
  • Consanguinity
  • Female
  • Humans
  • Infant
  • Karyotyping
  • Pedigree
  • Phenotype
  • Syndrome