Karyotype and array CGH on peripheral blood lymphocyte DNA. (a) Detail of the constitutional karyotype of the patient showing the normal chromosome 22 and the ring chromosome 22. (b) Array CGH profile using a genome-wide micro-array with a 1 Mb resolution on genomic blood DNA of the proband and female reference DNA as the control sample, showing five consecutive clones with decreased copy number (encircled in blue). The Y-axis marks the hybridization ratio plotted on a log2 scale. Light blue dots indicate known polymorphic clones. The green and red lines indicate, respectively, the 4 × standard deviation [SD] threshold and the 0.58 - 2 × SD threshold . (c) Detailed profile of chromosome 22 with deletion of five clones on the telomeric region of chromosome 22 (encircled in blue). (d) Overview of chromosome 22. The red empty square indicates the region shown in e. (e) Ensembl view for chromosome 22 (from 46 to 49 Mb) showing chromosome bands, Ensembl genes and 1 Mb clones. Deleted clones are indicated.
Denayer et al. BMC Medical Genetics 2009 10:97 doi:10.1186/1471-2350-10-97