Microdeletion syndromes

Gopalrao V Velagaleti, Nancy J. Carpenter

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Chromosome rearrangements that result in interstitial or terminal deletions or unbalanced translocations lead to disturbances in gene dosage. The rearrangements may be relatively large, one to several million bases in length, and involve a large number of genes. Disorders in which loss of multiple genes at closely linked loci result in diverse phenotypic effects are known as microdeletion or contiguous gene syndromes.

Original languageEnglish (US)
Title of host publicationGenetics of Developmental Disabilities
PublisherCRC Press
Pages521-583
Number of pages63
ISBN (Electronic)9780849348020
ISBN (Print)0824758137, 9780824758134
StatePublished - Jan 1 2005
Externally publishedYes

ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry, Genetics and Molecular Biology(all)

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