Article
SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation.
Human mutation - 1 Mar 2009
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
Abstract excerpt
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 five relatives with deletions of the short arm of chromosome 20 using the Illumina HumanHap550 SNP array to: 1) more accurately determine the deletion sizes; 2) identify and compare breakpoints; 3) establish...
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