SNP array mapping of 20p deletions: Genotypes, Phenotypes and Copy Number Variation

• Published in: Human mutation Vol. 30; no. 3; pp. 371 - 378
• Main Authors: Kamath, Binita M., Thiel, Brian D., Gai, Xiaowu, Conlin, Laura K., Munoz, Pedro S., Glessner, Joseph, Clark, Dinah, Warthen, Daniel M., Shaikh, Tamim H., Mihci, Ercan, Piccoli, David A., Grant, Struan F.A., Hakonarson, Hakon, Krantz, Ian D., Spinner, Nancy B.
• Format: Journal Article
• Language: English
• Published: 01.03.2009

The use of array technology to define chromosome deletions and duplications is bringing us closer to establishing a genotype/phenotype map of genomic copy number alterations. We studied 21 patients and 5 relatives with deletions of the short arm of chromosome 20 using the Illumina HumanHap550 SNP ar...