FIGURE 3. Families With CNVs in Regions Previously Shown to Be Associated With Schizophrenia^a.

^a Shown are the eight pedigrees with carriers of CNVs in five chromosomal regions with well-documented association of CNVs to schizophrenia, including 1q21.1 (typical HG18 boundaries 144.6–146.3 Mb), NRXN1 (interrupting exons of the gene, which lies on chromosome 2, 50–51.1 Mb), 15q13.3 (28.7–30.3 Mb), 16p11.2 (29.5–30.1 Mb), and 22q11.2 (17.1–20.2 Mb, or less commonly, a proximal 1.5 Mb deletion, as observed in individual NW33–4). Only genotyped offspring and their parents are shown, but all families were multiply affected. An illustrative example of each CNV is shown: the top plot shows the log(R) intensity (also known as log[R] ratio) for each probe location, with point-by-point estimates (in red) of changes in copy number (up for duplications, down for deletions) using a second algorithm (33). The bottom plot shows the B-allele frequency, i.e., where copy number=2, the designated “B” allele has 0%, 50%, or 100% of the total fluorescent intensity, but when copy number=1, only values of 0% or 100% are seen, while with copy number=3, some alleles have 33% or 67% of the total intensity, producing a distinctive pattern as shown. (Family IDs are masked.)