An extra small metacentric chromosome identified as a deleted chromosome no. 17

Clin Genet. 1976 May;9(5):454-58. doi: 10.1111/j.1399-0004.1976.tb01596.x.

Abstract

In an 11-year-old girl with multiple congenital abnormalities and mental retardation, an extra, small, metacentric chromosome was identified by banding methods as a deleted chromosome No. 17. This represents the first reported case of partial trisomy 17.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Child
  • Chromosome Aberrations*
  • Chromosome Deletion*
  • Chromosomes, Human, 16-18*
  • Female
  • Humans
  • Intellectual Disability / genetics
  • Trisomy