Affymetrix Cytoscan 750K analysis including weighted log2 ratio (upper), copy number state (middle) and allele difference (lower) are shown for chromosome 14. The result shows hemizygous microdeletion at 14q24.3q31.1, extending from chr14:79,258,267–79,480,738 (GRCh37/hg19), a region that overlaps exons 6–12 of the alpha isoform of NRXN3. The microdeletion region is denoted by a red bar. The NRXN3 deletions were detected in the proband, the mother and the maternal grandfather.