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Table 3 List of genomic rearrangements in patients with pathogenic CNVs

From: Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis

Patient No. Sex Type Locus Genomic coordinates Inheritance Syndrome OMIM
1 M del 1p36.33p36.31 chr1:837,491-6,458,739 de novo 1p36.33 deletion S. 607872
2 F del 1p36.33p36.31 chr1:544,268-5,983,997 de novo 1p36.33 deletion S. 607872
3 F del 1p36.22p36.13 chr1:11,722,823-17,104,536 de novo -  
   del 1p35.1p34.1 chr1:31,080,722-32,355,071 de novo -  
4 F del 1q23.3q24.2 chr:162,345,741-169,317,061 de novo -  
5 F del 1q41 chr1:217,316,641-218,402,514 not known 1q41-1q42 deletionS. 612530
   del 6q24.2 chr6:144,223,274-144,446,997 not known -  
6 Ref [14] M dup 1q42qter chr1:223,858,274-248,105,710 de novo -  
7 F del 2q14.3 chr2:125,049,268-129,322,082 de novo -  
8 F del 2q24.3 chr2:166,198,780-166,930,047 de novo -  
9 M dup 4p15.32 chr4:26,509-27,414 de novo -  
   del 17q24.2 chr17:64,682,538-65,991,538 de novo -  
10 M del 4q26q28.1 chr4:117,685,833-127,471,713 de novo -  
11 M dup 4q33q35.1 chr4:171,936,073-186,883,667 de novo -  
   del 4q35.1q35.2 chr4:186,913,016-190,976,417 de novo -  
12 Ref [15] M del 5p15.33p15.32 chr5:22,178-5,539,182 paternal Cri du Chat S. 123450
13 F del 5q14.3q15 chr5:89,535,781-92,554,566 de novo -  
14 M del 5q23.2q31.1 chr5:124,391,181-134,632,894 de novo -  
15 F del 6q27 chr6:168,378,740-169,862,121 de novo -  
16 M del 7q11.23 chr7:72,039,051-73,771,238 de novo Williams-Beuren S. 194050
17 M del 7q21.13q21.3 chi7:89,993,838-96,278,971 de novo Split Hand Foot Malformation 1 with sensorineural hearing loss 220600
18 M del 7q31.1q31.2 chr7:113,824,764-115,669,764 de novo -  
19 F del 7q36 chr7:153,669,067-159,107,239 de novo Holoprosencephaly-3 142945
20 F del 15q13.2q13.3 chr15:31,014,000-32,510,000 maternal -  
21 F del 15q26.3 chr15:99,836,103-102,351,195 paternal 15q26-qter deletion S. 612626
22 F dup 16p13.11p12.3 chr16:15,492,317-17,804,366 maternal -  
23 F del 17q12 chr17:31,891,355-33,726,698 de novo 17q12 deletion S 614527
24 M del 19p13.3 chr19:64,447-721,353 de novo -  
25 Ref [16] M dup 19q12q13.2 chr19:28,272,160-40,699,160 de novo -  
26 M del 22q13.31 chr22:45,576,757-51,178,264 de novo Phelan Mc Dermid S. 606232
   dup Xq28 chrX:153,322,653-153,406,233 de novo -  
27 F del 22q11.21 chr22:19,375,985-21,382,953 maternal DiGeorge S. 188400
  1. Genomic coordinates refer to Human Genome Assembly (Hg 19). If the analysis was performed with previous assemblies, data were converted in Hg 19. M = male, F = female, del = deletion, dup = duplication.