Diagnosis of microdeletion syndromes by fluorescence in situ hybridization (FISH)

Curr Protoc Hum Genet. 2001 May:Chapter 8:Unit 8.10. doi: 10.1002/0471142905.hg0810s14.

Abstract

This unit opens with an overview of microdeletions and methods for their detection. It goes on to describe a vast array of autosomal microdeletion syndromes, X-linked microdeletion syndromes, and microduplication syndromes. The final portion of the unit offers guidance for detecting such syndromes with Fluorescence in situ Hybridization (FISH).

Publication types

  • Review

MeSH terms

  • Chromosome Aberrations
  • Chromosome Deletion*
  • Chromosome Disorders / diagnosis*
  • Chromosome Disorders / genetics*
  • Female
  • Genetic Diseases, X-Linked / diagnosis
  • Genetic Diseases, X-Linked / genetics
  • Genetics, Medical
  • Humans
  • In Situ Hybridization, Fluorescence / methods*
  • Male
  • Syndrome