Table 3.
Chromosome | Band | Appoximate range (Kb) | Frequency patients (n = 70) | Frequency normals (n = 19) |
---|---|---|---|---|
1 |
p33-p32.3 |
48 700–53 300 |
47.7% |
47.7% |
1 |
q21.1-q21.2 |
145 800–148 500 |
49% |
50% |
2 |
q21.2-q21.3 |
134 334–136 693 |
42% |
58% |
3 |
p21.31-p21.1 |
46 500–52 500 |
71% |
68% |
4 |
p15.1 |
31 838–34 524 |
60% |
57% |
8 |
q22.2 |
99 200–101 200 |
47% |
63% |
8 |
p11.21-p11.1 |
41 870–43 270 |
49% |
47% |
8 |
q11.1-q11.21 |
47 040–49 000 |
46% |
68% |
10 |
p11.21 |
36 720–38 490 |
43% |
31% |
10 |
q22.2-q22.2 |
73 200–76 460 |
44% |
31% |
12 |
q21.32-q21.33 |
85 850–89 100 |
47% |
47% |
12 |
q24.11-q24.13 |
108 600–111 600 |
55% |
68% |
14 |
q23.3-q24.1 |
65 500–67 100 |
62% |
73% |
15 |
q12-q13.1 |
25 400–27 200 |
71% |
68% |
15 |
q15.1-q21.1 |
40 100–43 730 |
64% |
84% |
15 |
q23-q24.1 |
69 300–71 700 |
41% |
15% |
16 |
p11.2-p11.1 |
33 394–34 550 |
62% |
68% |
16 |
q11.2-q12.1 |
45 092–47 450 |
64% |
63% |
16 |
q21-q22.1 |
64 850–67 100 |
48% |
57% |
17 |
q22-q23.2 |
54 610–56 850 |
67% |
68% |
20 | q11.22-q11.23 | 31 910–35 500 | 68% | 42% |
The table presents the frequency (> 40%) of clustered regions of allelic homozygosity in the patient cohort (n = 70, including in-house reference) compared to the unaffected relatives (n = 19). Kilobase range according to Genome build 19 (NCBI 37).