Recently recognized chromosomal defects of clinical importance

Postgrad Med J. 1986 Feb;62(724):131-42. doi: 10.1136/pgmj.62.724.131.

Abstract

We review those conditions which have recently been recognized to be associated with small, sometimes difficult to detect, chromosomal abnormalities. These include the Prader-Willi syndrome and X-linked mental retardation.

Publication types

  • Review

MeSH terms

  • Chromosome Aberrations / diagnosis
  • Chromosome Aberrations / genetics*
  • Chromosome Deletion
  • Chromosome Disorders
  • Female
  • Fragile X Syndrome / genetics
  • Genetic Linkage
  • Humans
  • Male
  • Translocation, Genetic
  • X Chromosome