Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

97 Scopus citations

Abstract

Microarray-based comparative genomic hybridization (array CGH) has revolutionized clinical cytogenetics, as it provides a relatively quick method to scan the genome for gains and losses of chromosomal material with significantly higher resolution and greater clinical yield than was previously possible. A number of different array CGH platforms have emerged and are being used successfully in the diagnostic setting. In the past few years, these new methodologies have led to the identification of novel genomic disorders in patients with developmental delay/mental retardation and/or multiple congenital anomalies (DD/MR/MCA) as well as the discovery that each individual carries inherited copy number variations (CNV) whose contributions to genetic variation and complex disease are not yet well understood. Although array CGH is currently being used as an adjunct test to standard karyotype analysis, it is likely to become the genetic test of choice, especially in cases of idiopathic MR/MCA.

Original languageEnglish
Title of host publicationThe Year in Human and Medical Genetics 2009
PublisherBlackwell Publishing Inc.
Pages157-166
Number of pages10
ISBN (Print)9781573317313
DOIs
StatePublished - Jan 2009

Publication series

NameAnnals of the New York Academy of Sciences
Volume1151
ISSN (Print)0077-8923
ISSN (Electronic)1749-6632

Keywords

  • Array comparative genomic hybridization (CGH)
  • Clinical genetics
  • Mental retardation (MR)
  • Molecular cytogenetics

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