Cytogenomic Evaluation of Subjects with Syndromic and Nonsyndromic Conotruncal Heart Defects

Figure 1

Array-CGH ratio profiles of chromosomes from 6 subjects with pathogenic or potentially pathogenic genomic imbalances using genomic DNA from the patients as a test (red) and DNA from normal subjects as a reference (blue). The test/reference ratio data for each chromosome is shown. Each dot represents a single probe (oligo) spotted on the array. The log ratio of the chromosome probes is plotted as a function of chromosomal position. A copy number loss shifts the ratio downward (approximately −1x); a copy number gain shifts the ratio upward (approximately +1x). The ideogram of each chromosome (bellow each profile) shows the location of each probe. The probe log2 ratios were plotted according to genomic coordinates (based on the UCSC Genome Browser, February 2009, NCBI Build 37 reference sequence). (a) An approximately 2.94 Mb terminal deletion at chromosome 1p36.33-p36.32 (blue box) in case 268. (b) An approximately 1.15 Mb interstitial deletion at chromosome 1q21.1-q21.2 (blue box) in case 108. (c) An approximately 4.56 Mb terminal deletion at chromosome 7p22.3p22.1 (blue box) in case 376. (d) An approximately 2.5 Mb interstitial deletion at chromosome 22q11.21 (blue box) in case 58. (e) An approximately 0.52 Mb interstitial duplication at chromosome 16p11.2 (blue box) in case 269.

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