After careful consideration, we interpreted four of the CNVs as likely pathogenic: one each of Klinefelter syndrome (XXY), a 1.8 Mb duplication at 1q21.1–q21.2, a maternally inherited 402 kb deletion at 15q11.2, and a 365 kb duplication at 2p16.3 interrupting the NRXN1 gene. This evidence concerns the gene NRXN1 and Klinefelter syndrome.