SNP arrays of patients with clinically significant findings. (A) Patient 1 (46,XY,der(4)t(4;acro p)dn) has a copy number loss of 541 kb in 4p16.3 and a gain of 4.29 Mb in 4p16.2p16.3. The distal deleted and duplicated 4p segments are shown in detail below. (B) Patient 2 (t(5;18)(q11.2;p11.2)dn) has deletion of 4.21 Mb in 18p11.31p11.22. (C) Patient 3 (46,XY,inv(11)(p14q23.2)dn) had no imbalance on chromosome 11 but the SNP array revealed a de novo deletion of 4.3 Mb in 7q21.3q22.1. (D) Patient 4 (46,XY,inv(2)(q14.2q37.3)mat) has a maternally inherited paracentric inversion of chromosome 2q, with a 2q14.1q14.2 duplication of 4.2 Mb at the proximal breakpoint, and a 2q37.3 deletion of 3.5 Mb extending to the telomere.