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. Author manuscript; available in PMC: 2015 Apr 1.
Published in final edited form as: Autism Res. 2014 Mar 13;7(2):254–263. doi: 10.1002/aur.1365

Figure 1.

Figure 1

Detection of a 4p15.32 deletion inherited from mosaic mother. (A) Illumina 1 M-single SNP data viewed with Genome Studio V2011.1. The father (3388_1) shows normal copy number across the region, whereas the proband (3388_4) shows a heterozygous deletion. In contrast, the pattern shown for the mother (3388_2) suggests she is mosaic for the deletion. The 46 SNP inside the deletion are highlighted in red. Region shown is chr4:14 000 000–17 000 000 (NCBI36/hg18 build). (B) Quantitative PCR showing the relative gene dosage of CD38 exon 1 (deleted) relative to exon 2 (not deleted). Results are normalized using the father (3388_1) who has a normal copy number at this locus. Two independent qPCR experiments were performed and the results combined (error bars: +/− SD). The results help validate the deletion in 3388_4, and the intermediate result seen for the mother is consistent with her being a mosaic for this CNV. Although there is some variability between the two runs, the results suggest that the older sister (3388_3) has not inherited the deletion. (C) Pedigree drawing summarizing the CD38deletion status. Gray shading indicates autism, while black shading indicates autism and asthma.