Figure 5
From: A de novo atypical ring sSMC(22) characterized by array CGH in a boy with cat-eye syndrome
Result of the array CGH genotyping (GRCh37/hg19) and mapping of the genomic gain, originating from chromosome 22. Cytogenetic loci on chromosome 22 (a). The red rectangle indicates the length of a 1.221 Mb size gain on chromosome 22q11.1-q11.21 in the male patient. Schematic representation of the chromosome 22q11.11-22q11.22 region with delineated genomic regions (b). Gray boxes indicate Low copy repeat regions LCR22s (A-E). The arrow numbers represent the microsatellite markers (from D222S427 to TOP1P2), cen:centromere, tel: telomere. Panel (c) shows the enlarged LCR22 “A” region, which is affected in the patient. Next to the ideogram the affected genes and positions are listed, single copy gains are marked by red whereas double copy gains are marked with blue colour. Panel (d) reveals the result of the array CGH genotype. The CGX ISCA plus array (assembly GRCh37/hg19) showed a 1.221-Mb gain, which is separated in three regions: an 0.1629 Mb length region which has 3 copies (the red base line is above zero with around 0.5 log2 score), an 0.2011 Mb length region which has 4 copies (the red base line is above zero with around 1.0 log2 score) and an 0.8568Mb length region which has 3 copies (the red base line is above zero with around 0.5 log2 score).