Figure 7. .

Array CGH results for patients with MR. Submegabase-resolution array CGH was performed as described elsewhere.¹⁵ After normalization by subgrid LOWESS, Cy3:Cy5 intensity ratios of each clone were plotted in a size-dependent manner along the chromosome ideograms, by use of CGHPRO.¹⁶ Red and green bars indicate the log₂ ratio thresholds of −0.3 (loss) and 0.3 (gain), respectively. A homozygous deletion of 6q16.3 was the only aberration that cosegregated with the disease; it was present in all affected probands and was absent in all unaffected probands tested. Array CGH data shown here have been deposited in NCBI Gene Expression Omnibus (GEO)¹⁷ and are accessible through GEO series accession number GSE 7886. a, Close-up of findings for patient 6q16.3, demonstrating a deletion of two BAC clones (RP11-226C08 and RP11-543M18 [arrows]) encompassing GRIK2. (Because of lower hybridization quality for V:6, only one BAC represents the DNA copy-number loss.) b, Overall view of chromosome 6 in the corresponding patients. A red rectangle highlights the region depicted in panel a.