Fig. 2

UCSC Genome Browser May 2004 screen captures of novel structural variants [17] in individuals with syndromic autism (http://genome.ucsc.edu). a Deletion identified in two affected siblings (one with microopthalmia), AU1334303 and AU1334302. The deleted region on chromosome 1q24.2 includes the genes XCL2 and DPT. b Deletion identified in one affected proband (with microopthalmia) AU027505. As no genes lie within the deletion region, this CNV did not meet our criteria for continued study and additional family members were not screened. The deleted region on chromosome 2p22.1 is non-genic, however, it is notable that region appears to contain conserved elements and is within close proximity of the gene SLC8A1. c Duplications were identified in two affected siblings (one with alopecia), AU005303 and AU005304. The duplicated regions on chromosome 3p26.2 and 3p26.1 overlap with LRRN1 and lie close to CNTN4 and GRM7. d Duplication identified affected siblings (one with syndactyly, the other with clinodactyly) AU010903 and AU010904. The duplicated region on chromosome 4q34.2 encompasses two genes, WDR17 and ABS5. e Deletion identified in one affected sibling (with adducted thumbs), AU067703. The deleted region on chromosome 6q24.3 includes STXBP5. f Second duplication identified in individual AU1334302. The duplicated region on chromosome 22q11.21 includes a number of genes and overlapping regions of common variation, however, the breakpoints identified in AU1334302 are unique to the Database of Genomic Variants and include genes such as SNAP29 that do not show evidence of common variation