Physical mapping of an Xq-proximal interstitial duplication in a male

Hum Genet. 1992 Mar;88(6):691-4. doi: 10.1007/BF02265299.

Abstract

A viable duplication in the proximal long arm of the X chromosome in a boy with a malformative syndrome was delineated with molecular biology techniques using 14 probes from the X cen-Xq21 region. This analysis allowed us to refine the physical map of the X cen-Xq13 region.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adult
  • Blotting, Southern
  • Cells, Cultured
  • Child
  • Chromosome Banding
  • Female
  • Genetic Markers
  • Humans
  • Male
  • Molecular Probes
  • Multigene Family*
  • X Chromosome*

Substances

  • Genetic Markers
  • Molecular Probes