Table 2.
Bioinformatic analysis of the analyzed breakpoints
| Cytogenetic Band | Case | Molecular Breakpoint | 250 Kb interval | ALU | LINE | REF SEQ (IB) | REF SEQ (IC) | SD (IC) | SD (IB) | GC |
|---|---|---|---|---|---|---|---|---|---|---|
| 1p34.2 | 2 | RP11-318G20_RP11-632A13 | chr1:40,158,249-40,408,249 | 2,27 | 0,77 | 0,71 | 2,16 | 0,67 | 0,21 | 1,06 |
| 1q32.1 | 1 | RP11-219P13_RP11-1089F13 | chr1:203,949,120-204,199,120 | 1,13 | 0,78 | 1,11 | 3,09 | 0,44 | 0,27 | 1,07 |
| 1q32.1 | 1 | RP11-145I13_RP11-57I17 | chr1:205,496,738-205,746,738 | 0,52 | 1,55 | 0,76 | 1,85 | 0,22 | 0,15 | 0,91 |
| 2q37.1 | 4 | RP11-332L11_RP11-94I20 | chr2:234,468,641-234,718,641 | 0,69 | 0,94 | 1,3 | 1,01 | 0 | 0 | 1,05 |
| 3p21.31 | 5 | RP11-804H15_RP11-3B7 | chr3:49,112,155-49,393,337 | 4,17 | 0,16 | 1,7 | 7,05 | 0 | 0 | 1,24 |
| 3p21.31 | 6 | RP11-352L13_RP11-419G15 | chr3: 48,395,535-48,645,535 | 2,37 | 0,38 | 1,84 | 9,88 | 0,77 | 0,44 | 1,32 |
| 3p21.31 | 7 | RP11-316 M24 | chr3:48,787,955-49,037,955 | 4,6 | 0,45 | 2,02 | 6,58 | 0 | 0 | 1,18 |
| 4p16.2 | 11 | RP11-323F5_RP11-341O1 | chr4:4,566,405-4,816,405 | 1,22 | 0,54 | 0,33 | 0,65 | 0 | 0 | 1,18 |
| 4p16.3 | 8 | RP11-919N24 | chr4:2,277,155-2,527,155 | 3,37 | 0,56 | 1,9 | 1,31 | 0,38 | 0,33 | 1,34 |
| 4q12 | 10 | RP11-680 M13_RP11-167A8 | hr4:58,262,438-58,512,438 | 0,39 | 1,34 | 0 | 0 | 0 | 0 | 0,94 |
| 4q12 | 10 | RP11-622J1_RP11-793H8 | chr4:58,796,340-59,046,340 | 0,5 | 1,28 | 0 | 0 | 0 | 0 | 0,95 |
| 6p12.3 | 12 | RP3-347E1_RP11-446F17 | chr6: 46,562,151-46,812,151 | 0,67 | 1,1 | 1,76 | 1,72 | 0 | 0 | 0,95 |
| 6p12.3 | 12 | RP1-142O9_RP11-28H17 | chr6:49,380,518-49,630,518 | 0,82 | 1,04 | 0,93 | 1,72 | 0 | 0 | 0,92 |
| 6p21.31 | 13 | RP11-666K4_RP11-652G7 | chr6: 36,095,599-36,345,599 | 1,52 | 0,82 | 1,63 | 4,32 | 0 | 0 | 1,09 |
| 6p22.1 | 41 | RP11-635O11 | chr6:27,927,951-28,177,951 | 1,2 | 0,78 | 0,21 | 4,75 | 1,05 | 0,49 | 0,98 |
| 6q14.1 | 14 | RP11-1063N1_RP11-422O8 | chr6:83,741,988-83,991,988 | 1,21 | 0,86 | 2,37 | 2,16 | 0 | 0 | 0,95 |
| 7p14.3 | 15 | RP11-803J20_RP11-350H1 | chr7:32,789,214-33,039,214 | 1,91 | 0,65 | 1,06 | 2,54 | 0,92 | 5,42 | 1,05 |
| 7q22.2 | 37 | RP11-251G23 | chr7:104,889,282-105,139,282 | 2,55 | 0,5 | 1,95 | 2,12 | 0,61 | 0,07 | 1,09 |
| 8p12 | 38 | RP11-346L1_RP11-113G10 | chr8:37,576,531-37,826,531 | 2,13 | 0,44 | 1,01 | 4,09 | 0 | 0 | 1,2 |
| 9p22.3 | 46 | RP11-307K19_RP11-518K17 | chr9:15,456,627-15,734,271 | 1,47 | 1,44 | 2,16 | 1,87 | 0 | 0 | 0,93 |
| 9p24.1 | 50 | RP11-1084A8 | chr9:6,611,140-6,861,140 | 3,44 | 0,34 | 1,78 | 2,34 | 0,16 | 0,05 | 1,07 |
| 9q22.31 | 17 | RP11-412A12 | chr9:93,506,167-93,756,167 | 1,18 | 0,78 | 2,32 | 0,46 | 0 | 0 | 1,12 |
| 10p11.22 | 39 | RP11-241I20 | chr10:32,250,540-32,500,540 | 2,18 | 0,68 | 0,49 | 0,82 | 0,47 | 0,15 | 1,02 |
| 11p15.4 | 46 | RP11-120E20 | chr11:3,312,588-3,573,461 | 1,56 | 0,64 | 0,43 | 1,1 | 40,59 | 18,97 | 1,1 |
| 11q12.1 | 50 | RP11-624G17 | chr11:56,933,830-57,183,830 | 2,55 | 0,44 | 1,1 | 3,85 | 0 | 0 | 1,17 |
| 11q13.1 | 19 | RP11-665N17 | chr11:64,231,470-64,481,470 | 2,03 | 0,24 | 1,73 | 6,88 | 0 | 0 | 1,32 |
| 11q13.1 | 19 | RP11-821O7_RP11-755F10 | chr11:65,514,670-65,764,670 | 1,28 | 1,4 | 2,01 | 2,2 | 0 | 0 | 1,11 |
| 11q14.2 | 48 | RP11-185J12 | chr11: 85,624,712-85,874,712 | 1,45 | 1,09 | 1,6 | 3,02 | 0 | 0 | 0,96 |
| 11q21 | 20 | RP11-8N17 | chr11:95,707,670-95,957,670 | 0,45 | 1,6 | 0,49 | 0,82 | 0 | 0 | 0,9 |
| 11q24.2 | 48 | RP11-417F7 | chr11:124,646,245-124,896,245 | 1,21 | 0,52 | 2 | 0,82 | 0 | 0 | 1,13 |
| 12p13.32 | 43 | RP11-319E16 | chr12:5,129,118-5,379,118 | 0,41 | 0,94 | 0 | 0 | 0 | 0 | 1,04 |
| 12q13.13 | 41 | RP11-199A1_RP11-714I16 | chr12:50,354,699-50,604,699 | 1,17 | 0,52 | 1,47 | 2 | 4,8 | 0,33 | 1,14 |
| 12q13.2 | 22 | RP11-559I11_RP11-973D8 | chr12:54,434,528-54,684,528 | 2,86 | 0,38 | 1,65 | 6,35 | 0,48 | 0,48 | 1,11 |
| 12q23.3 | 21 | RP11-643D8_RP11-711H11 | chr12:103,184,790-103,434,790 | 1,41 | 0,58 | 1,33 | 2,33 | 0 | 0 | 1,07 |
| 12q24.21 | 24 | RP11-812F13_RP11-379F8 | chr12:114,736,981-114,986,981 | 0,91 | 0,86 | 0,98 | 0,33 | 0 | 0 | 1,01 |
| 12q24.31 | 23 | RP11-463O12_RP11-197N18 | chr12:121,846,884-122,096,884 | 2,14 | 0,57 | 1,91 | 4,67 | 0 | 0 | 1,25 |
| 12q24.31 | 23 | RP11-338K17_RP11-380L11 | chr12:122,702,493-122,952,493 | 2,21 | 0,72 | 2,18 | 1,67 | 0 | 0 | 1,1 |
| 13q14.12 | 25 | RP11-106H11 | chr13:45,408,774-45,658,774 | 0,98 | 0,88 | 2,43 | 3,5 | 0 | 0 | 0,98 |
| 13q14.12 | 25 | RP11-24B19 | chr13:50,678,660-50,928,660 | 0,9 | 0,65 | 2,09 | 4,38 | 0 | 0 | 1,06 |
| 14q11.2 | 18 | RP11-749G5_RP11-298I3 | chr14:22,280,500-22,530,500 | 3,01 | 0,39 | 1,38 | 10,02 | 0 | 0 | 1,16 |
| 14q24.2 | 27 | RP11-667E7 | chr14:71,197,805-71,447,805 | 1,05 | 1,2 | 0,81 | 0,41 | 0 | 0 | 1,01 |
| 14q32.31 | 49 | RP11-796G6_RP11-350L3 | chr14:101,148,480-101,398,480 | 1 | 1,41 | 1,07 | 2,5 | 0,44 | 0,44 | 1,07 |
| 14q32.31 | 49 | RP11-114H15_RP11-356L8 | chr14:101,630,161-101,880,161 | 2,78 | 0,54 | 2,38 | 2,92 | 0 | 0 | 1,14 |
| 15q22.2 | 27 | RP11-74K1 | chr15:58,405,774-58,655,774 | 1,06 | 0,44 | 1,7 | 3,7 | 0,41 | 0,14 | 0,96 |
| 15q24.1 | 40 | RP11-247C2 | chr15:72,080,168-72,330,168 | 1,06 | 0,56 | 1 | 8,53 | 3,28 | 2,71 | 1,19 |
| 15q24.1 | 49 | RP11-247C2 | chr15:72,080,168-72,330,168 | 1,06 | 0,56 | 1 | 8,53 | 3,28 | 2,71 | 1,19 |
| 15q24.3 | 28 | RP11-20 M10 | chr15:75921863-76171863 | 0,88 | 0,47 | 0,82 | 1,48 | 6,78 | 5,58 | 1,2 |
| 16p11.2 | 29 | RP11-779B17 | chr16:31,765,790-32,015,790 | 2,15 | 0,56 | 0,39 | 0,28 | 6,11 | 5,91 | 0,93 |
| 16q24.3 | 30 | RP11-79A1 | chr16:88,199,243-88,449,243 | 1,92 | 0,21 | 1,86 | 5,1 | 0 | 0 | 1,21 |
| 17p13.1 | 30 | RP11-89D11 | chr17:7,395,110-7,645,110 | 1,66 | 0,64 | 1,56 | 6,66 | 0,29 | 0 | 1,1 |
| 17p13.3 | 33 | RP5-1029F21 | chr17:267,052-517,052 | 1,11 | 1,18 | 1,49 | 0,52 | 0,58 | 0,23 | 1,02 |
| 17q21.2 | 31 | RP11-156A24 | chr17:36,799,760-37,049,760 | 0,39 | 0,52 | 0,47 | 2,45 | 1,59 | 1,92 | 1,1 |
| 17q25.3 | 32 | RP11-46E14 | chr17:75,272,119-75,522,119 | 0,83 | 0,63 | 0,22 | 0,87 | 0,29 | 0,93 | 1,2 |
| 19q13.32 | 34 | RP11-846 M4 | chr19:51,871,627-52,121,627 | 1,41 | 0,64 | 0,93 | 1,77 | 0 | 0 | 1,03 |
| 20q13.33 | 42 | RP4-591C20_RP11-266K16 | chr20:62,058,835-62,308,835 | 0,95 | 0,29 | 1,47 | 4,29 | 1,87 | 0,91 | 1,27 |
| 21q22.13 | 35 | RP11-315B15_RP11-777J19 | chr21:37,536,287-37,809,765 | 2,2 | 0,89 | 1,77 | 2,67 | 0 | 0 | 0,98 |
| 21q22.13 | 35 | RP11-105O24_RP11-1021I19 | chr21:37,747,110-37,997,110 | 0,98 | 1,02 | 1,57 | 2,67 | 0 | 0 | 1,04 |
| Xq13.1 | 36 | RP11-69L22_RP11-237F13 | chrX:68,788,268-69,038,268 | 0,66 | 1,58 | 3,32 | 1,95 | 0 | 0 | 0,97 |
The 250 Kb size intervals covering the molecular breakpoints were analyzed for the presence of Alu, LINE, RefSeq Genes, SDs, and GC. The reported values were normalized to the mean value for each chromosome. In cases characterized by sequences deletions or the involvement of several chromosomes, more than one molecular breakpoints was identified.