We next explored the potential involvement in TS of CNVs at specific genome regions, stratifying by size. We first examined the 24 (out of 27) regions with CNVs >500 Kb that were detected only in the cases. Of these, 4 did not include exons of any annotated gene. The remaining 20 mapped to 15 different genomic regions. Two of these contain genes for uncharacterized proteins with no known functions (LOC284749 and FLJ46357). The remaining 18 large CNVs were located in 13 gene regions (Table S1). Of these regions, 10 presented rearrangements in a single case and some of these regions could be of potential relevance for TS (such a region on 22q11 overlapping DiGeorge’s syndrome critical region (Figure S4–43) which has been implicated in rare unusual TS cases [21], [22] and has also been found to be associated with schizophrenia [23]–[25]). Three regions showed rearrangements in more than one TS case. A ∼600 Kb region on 3q12.1 (overlapping the COL8A1 gene) was duplicated in four cases (Table 2). Two other regions on 2p22.3 and 5q21.1 (overlapping the BIRC6/TTC27/LTBP1 and the
