Patient | Age | MLPA ST | Follow-up |
---|---|---|---|
24 | 7 | del 2q (1), dup 22q (2) | confirmed by FISH |
19 | 3 | del 3p (1) | Â |
27 | 11 | del 3p (2) | carried by maternal aunt |
17 | 2 | del 4q (1) | Â |
26 | 22 | dup 5q (2) | Â |
30 | 3 | dup 5q (2) | Â |
29 | 6 | dup 6p (2) | carried by affected sister |
28 | 3 | dup 8p (1) | confirmed by FISH |
16 | 3 | del 8p (2) | confirmed by FISH |
31 | 35 | del 8p (1) | Â |
18 | 9 | dup 9p (1), dup XYp (2), del XYq (2) | 9pdup maternal, abnormal Y confirmed by FISH |
21 | 4 | dup 9p (1) | maternal |
25 | 2 | dup 9p (1) | paternal |
20 | 7 | dup 16p (1) | maternal |
32 | 1 | dup 21q (1) | Â |
22 | 2 | dup XYp (2) | paternal |
23 | 2 | dup XYq (2) | confirmed by FISH |
3 | 5 | dup 7q (2), del 10q (2) | abnormal karyotype |
6 | 1 | dup XYp, dup XYq | abnormal karyotype |
10 | 2 | dup XYp, dup XYq | abnormal karyotype |
4 | 1 | del 20p | abnormal karyotype |
9 | 1 | XXY | abnormal karyotype |