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AJMA_32899_sm_SupplFig1.pdf20KFig. 1: Dysmyelination critical region. Panel A illustrates the chromosome content for everyone with an 18q deletion and dysmyelination using the UCSC Genome Browser Custom Tracks feature. The horizontal light blue bars depict the region of chromosome 18 that is present in two copies. The darker blue sections are the breakpoint regions. All individuals who have retained a distal segment of chromosome 18 have interstitial deletions and not translocations to other chromosomes. Panel B depicts the chromosome content data from the two individuals whose deletions define the smallest common region of hemizygosity. This region is shown along with the known genes in the region.
AJMA_32899_sm_SupplFig2.pdf52KFig. 2: Oligonucleotide array comparative genomic hybridization microarray (aCGH) data for pairs of participants whose deletions define the smallest common hemizygous region for dysmyelination, growth hormone response failure and aural atresia. The colored bars indicate the location of features that are significantly different from 0 on the log2 scale. Features exactly on the 0 vertical axis have a 1:1 red green color ratio between the test and reference DNA samples. The region where the two bars overlap indicates the overlapping deletions (i.e. the critical region).
AJMA_32899_sm_SupplFig3.pdf14KFig. 3: Growth hormone stimulant response failure critical region. Panel A illustrates the chromosome content for everyone with an 18q deletion and growth hormone stimulation failure using the UCSC Genome Browser Custom Tracks feature. The horizontal light blue bars depict the region of chromosome 18 that is present in two copies. The darker blue sections are the breakpoint regions. All individuals who have retained a distal segment of chromosome 18 have interstitial deletions and not translocations to other chromosomes.
AJMA_32899_sm_SupplFig4.pdf20KFig. 4: Aural atresia critical region. Panel A illustrates the chromosome content for everyone with an 18q deletion and aural atresia using the UCSC Genome Browser Custom Tracks feature. The horizontal light blue bars depict the region of chromosome 18 that is present in two copies. The darker blue sections are the breakpoint regions. All individuals who have retained a distal segment of chromosome 18 have interstitial deletions and not translocations to other chromosomes. Panel B depicts the chromosome content data from the two individuals whose deletions define the smallest common region of hemizygosity. This region is shown along with the known genes in the region.

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