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. 2018 Oct 1;26(Suppl 1):113–819. doi: 10.1038/s41431-018-0247-7
Patient Age Gender arrayCGH results Size Inheritance Clinical features Classification (ISCA, UCSC, DGV, ClinVar and DECIPHER)
2 9 year M arr cgh(hg 19) 2q37.2 (236,114,456–236,512,302)x3 397 kb de novo Intellectual disability VOUS
5 1 year F arr cgh(hg 19) 22q11.21 (18,894,832 - 21,440,514)x1 2546 kb de novo Developmental delay, intellectual disability, speech delays Pathogenic
7 1 year F arr cgh(hg 19) 6q23.3-q27 (138,180,512–170,906,796)x3 32726 kb de novo Developmental delay, intellectual disability, speech delays Pathogenic
13 13 year M arr cgh(hg 19) Xq21.31-q21.32 (91,701,124–92,238,826)x3 538 kb de novo Intellectual disability VOUS
15 8 year M arr cgh(hg 19) 4q32.3 (167,766,818–169,176,455)x3 1410 kb de novo Intellectual disability VOUS
22 1 year F arr cgh(hg 19) 1q21.1-q21.2 (146,507,518–147,824,207)x3 1316 kb de novo Developmental delay, Intellectual disability, speech delays Pathogenic
26 17 year M arr cgh(hg 19) 10q21.3 (68.359.435–68.486.777)x1 127 kb de novo Mild Intellectual disability VOUS
27 13 year M arr cgh(hg 19) 2q37.3 (240.057.136–243.040.276)x1 arr cgh(hg 19) 20q13.32-q13 (56.546.112–62.908.674)x3 2983 kb6363 kb de novo Severe intellectual disability, hearing loss Pathogenic
30 12 year M arr cgh(hg 19) 16p11.2 (29.656.684–30.190.568)x1 534 kb de novo Intellectual disability, Hyperactivity Pathogenic
33 9 year F arr cgh(hg 19) 20q11.21-q12 (29,842,786–41,548,389)x3 arr cgh(hg 19) 20q13.31 (55,846,129–56,177,485)x1 11706 kb331 kb de novo Developmental delay, Intellectual disability Pathogenic
35 15 year M Chromosome 1 LOH - de novo Intellectual disability, bilateral cryptorchidism Pathogenic
38 11 year M arr cgh(hg 19) Xp.21.1 (32,791,931–33,641,487)x3 850 kb de novo Intellectual disability VOUS
40 1 year M arr cgh(hg 19) 15q11.2 (22,698,522–23,300,287)x1 arr cgh(hg 19) 16q12.1 (48,304,344–48,549,404)x3 602 kb245 kb de novo Intellectual disability VOUS
41 6 year F arr cgh(hg 19) 6p23-p22 (14,087,024–24,834,000)x1 10747 kb de novo Developmental delay, intellectual disability, speech delays, VSD Pathogenic