Standard Article

Microdeletions

Part 1. Genetics

1.2. Cytogenetics

Short Specialist Review

  1. John A. Crolla

Published Online: 15 NOV 2005

DOI: 10.1002/047001153X.g102302

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

How to Cite

Crolla, J. A. 2005. Microdeletions. Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics. 1:1.2:17.

Author Information

  1. Salisbury District Hospital, Wessex Regional Genetics Laboratory, Salisbury, UK

Publication History

  1. Published Online: 15 NOV 2005

Abstract

Microdeletions involving contiguous genes some of which have also unmasked novel mutational mechanisms have been found in association with specific clinical syndromes (The Microdeletion Syndromes). Recently, the use of genome-wide dosage-sensitive techniques have identified multiple deleted (and duplicated) genomic segments in patients with abnormal phenotypes as well as in clinically normal controls, thereby providing further intriguing insights into the distribution and significance of pathogenic and nonpathogenic imbalances in the human genome (see Polymorphic inversions, deletions, and duplications).

Keywords:

  • fluorescence in situ hybridization;
  • microarray-CGH;
  • microdeletions;
  • genomic polymorphisms;
  • mutations;
  • position effect