Genomic Structural Variants

Volume 838 of the series Methods in Molecular Biology pp 137-149


Structural Variation in Subtelomeres

  • M. Katharine RuddAffiliated withDepartment of Human Genetics, Emory University School of Medicine Email author 

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Subtelomeres are an incredibly dynamic part of the human genome located at the ends of chromosomes just proximal to telomere repeats. Although subtelomeric variation contributes to normal polymorphism in the human genome and is a by-product of rapid evolution in these regions, rearrangements in subtelomeres can also cause intellectual disabilities and birth defects, making robust methods of detecting copy number variation in chromosome ends a must for cytogenetics labs. In recent years, methods for detecting structural variation in subtelomeres have moved from fluorescence in situ hybridization (FISH) to array technology; however, FISH is still necessary to determine the chromosomal structure of subtelomeric gains and losses identified by arrays.

Key words

Subtelomere Chromosome Array CGH FISH Structural variation Polymorphism CNV