normal versus normal control hybridizations on MCG Cancer Array-800; a representative genomic profile obtained from one of six normal versus normal control hybridizations. Clones are ordered from chromosome 1 to 22 and within each chromosome on the basis of the UCSC mapping position (http://genome.ucsc.edu/, version December 2000). Thresholds for copy number gain and loss are shown at within log2ratio of 0.2 and -0.2, respectively.
B.Detection of hemizygous deletion on MCG Whole Genome Array-4500 in a patient with Williams syndrome (WMS: MIM194050). WMS is a contiguous gene syndrome that is characterized by a hemizygous deletion at chromosome 7q11.23. An array profile of chromosome 7 shows reduced fluorescent ratios at three BACs within the WMS critical region (arrow), indicating that our CGH array can discriminate one copy loss in a background of diploid genome. In the right panel, FISH confirmation clearly shows one copy loss of LIMK1 (green signal) within the WMS critical deletion. Red signals are for control BAC at 7q11.21.