Figure 2.

Multiple defects in chr 12q in the proband. (A) SNP microarray reveals 184 kb deletion encompassing 11 genes on chr 12q and (B) copy neutral loss of heterozygosity comprising at least two regions of chr 12q - denoted by green and red boxes. (C, D) PCR across 184 kb breakpoint in peripheral blood and lymphoblastoid cell line gives product of expected size in the proband which was then confirmed to be de novo germline in a hair sample (E). (F) SNP microarray reveals copy neutral loss of heterozygosity events were absent in the proband early in the disease prior to spontaneous recovery.