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AJMA_34034_sm_Suppl-Fig-1.tif215KFig. 1: Affymetrix SNP6.0 copy number data (log2 ratio and smoothed signal) for patients II:2 and II:4 showing the paternally inherited 0.8Mb duplication of chromosome 16 (horizontal blue bar) within band q22.1 (region highlighted on the accompanying ideogram).
AJMA_34034_sm_Suppl-Fig-2.tif168KFig. 2: Affymetrix SNP6.0 copy number data for patients II:2 and II:4 showing the maternally inherited 1.9Mb deletion of chromosome 15 (horizontal red bar) between bands q13.2 and q13.3.
AJMA_34034_sm_Suppl-Fig-3.tif267KFig. 3: In situ hybridization testing of paternal chromosomes (Patient I:3) showing an amplified green signal (arrowed) for probe RP11–140H17 on the metaphase spread (left hand side) and interphase cell (right hand side) confirming the parental origin of the 16q22.1 tandem duplication.
AJMA_34034_sm_Suppl-Fig-4.tif149KFig. 4: FISH testing of maternal metaphase chromosomes (Patient I:2) showing a red centromeic control signal for both chromosome 15 homologues and only a single green signal for probe RP11–164K24 confirming the maternal origin of the 15q13.2–q13.3 deletion.

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