PMC4891832_01
Family 1: Log Ratio plots of Illumina CytoSNP-12: a - partial chromosome 6q plot showing the 6q duplication in family 1: the mother and the fetus carry a 6q22q23 duplication. The arrows indicate the duplicated region. b - partial chromosome 16p plot showing the imbalances in 16p11: the father carries 16p11 microdeletion, the mother 16p11 microduplication, whereas the fetal array profile is normal for both 16p regions. The arrows indicate the imbalances in parental samples
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PMC4891832_01_13039_2016_253_Fig1_HTML.jpg
Fig1
Amniocentesis was performed at 15 5/7 weeks of gestation and diagnostic array testing on uncultured amniotic fluid cells showed only the interstitial 6q duplication (Fig. 1).
PMC4891832_02
Family 2: a -Karyotype in standard resolution for chromosome 6, showing the interstitial duplication (arrow). b -array results (Oligo aCGH Agilent 60 K) for chromosome 6 in family 2 showing duplication of 6q present in family 2. c- The duplicated region and its gene content
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PMC4891832_02_13039_2016_253_Fig2_HTML.jpg
Fig2
SNP-array (Affymetrix CytoScan HD) was performed, showing a 15.3 Mb duplication (arr[hg19]6q21q22.33(113,465,762-128,774,807)x3) (Fig. 2).