| 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 |