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Table 1 Seventy-four families with affected children having deletion or duplication in one or two chromosomal regions included in this study are listed here. Overall 81 copy number variations (CNVs) distributed on all human chromosomes apart from #11 and Y-chromosome were studied. Cases with two CNVs were numbered as A and B, i.e. cases 11, 13, 14, 17, 19 and 46. For the index patient the chromosomal region affected, the mode of inheritance of the CNV (origin) and the gender are given here; for more details see Additional file 1: Table S1

From: Parental origin of deletions and duplications – about the necessity to check for cryptic inversions

Case number Chromosomal region affected Origin Gender carrier Case number Chromosomal region affected Origin Gender carrier
1 2q21.1q21.3 del(mat/pat)cons. n.a. 37 7p12.3p14.1 inv(mat) m
2 12q15q21.2 del(mat) f 38 4q13.3q22.1 inv(mat) f
3 15q11.2 del(mat) f 39 16p11.2 inv(mat) f
4 6q14.3q15 del(mat) f 40 17q21.31q21.31 inv(mat)mos n.a.
5 6q22.33 del(mat) m 41 2q23.1q23.2 inv(mat)mos m
6 Xp22.33 del(mat) m 42 7q32.3q33 inv(pat) n.a.
7 12p12.3p12.3 del(mat) m 43 7q31.32q32.2 inv(pat) m
8a 4q13.2q21.21 del(mat) m 44 6q21q22.31 inv(pat) m
9 16p11.2 del(mat) m 45 15q26.1q26.3 inv(pat) m
10 2p16.3 del(mat) f 46a 2p14 inv(pat) m
11a 16p13.11 del(mat) n.a. 47 15q13.2-q13.3 de novo n.a.
11b 16p13.11 del(mat) n.a. 48 8q24.3q24.3 de novo n.a.
12 1q43q44 del(mat) n.a. 49 19p13.2p13.3 de novo m
13a 16p12.2 del(mat) m 50 1p32.1p31.1 de novo f
14a 14q12 del(mat)mos n.a. 51 7q31.1q31.1 de novo f
14b 15q11.2 del(mat)mos n.a. 52 14q12 de novo n.a.
15 7q11.23q21.11 del(pat) f 53 16p11.2 de novo n.a.
16 1q21.1 del(pat) m 19b 15q11.2q13.1 de novo f
17a 16p13.11 del(pat) n.a. 54 12q12q13.11 de novo m
17b 16p11.2 del(pat) n.a. 55 13q22.2q31.1 de novo f
18 18p11.32 del(pat) m 56 10q22.3q23.2 de novo n.a.
19a 2q13 del(pat)mos f 57 7p15.3p15.2 de novo m
20 7q22.1 del(pat)mos m 58 6q13q15 de novo n.a.
21 15q11.2 dup(mat) n.a. 59 4q21.22q22.1 de novo f
22 5q11.1q11.2 dup(mat) n.a. 60 4q35.2 de novo n.a.
8b 22q12.3q13.2 dup(mat) m 61 3q26.3q27.3 de novo n.a.
23 3q29 dup(mat) n.a. 62 6q21q22.33 de novo m
24 3q29 dup(mat) n.a. 63 3p14.1p12.3 de novo n.a.
25 19p13.3p13.3 dup(mat) m 64 12q15q21.1 de novo f
26 22q11.21 dup(mat)mos m 65 16q24.1q24.2 de novo n.a.
27 7q34q36.3 dup(mat)mos n.a. 66 7p15.3 de novo n.a.
28 4q13.1 dup(pat) n.a. 67 9q22.31q22.33 de novo n.a.
29 7q31.31q31.33 dup(pat) f 68 16q24.1q24.3 de novo n.a.
30 4q25 dup(pat) n.a. 69 2q31.1 de novo n.a.
31 13q12.13 dup(pat) n.a. 70 21q22.12q22.2 de novo n.a.
13b 8p23.1p22 dup(pat) m 71 5q35.2q35.3 de novo n.a.
32 4q21.21q21.23 inv(mat) m 72 4q21.1q21.21 de novo n.a.
33 20p12.3 inv(mat) n.a. 73 10q11.22q11.23 de novo n.a.
34 1p36.13p16.11 inv(mat) n.a. 46b 2q31.2q31.3 de novo m
35 17q12 inv(mat) m 74 7q32.3q33 de novo n.a.
36 17q21.31q21.31 inv(mat) m     
  1. cons consanguineous, del deletion, dup duplication, inv. inversion, mat maternal, mos mosaic, pat paternal