|
Results of subtelomeric FISH for the nine patients with rearrangements. |
||||
| Case |
Family history of MR |
Karyotype |
Deletion/duplication size |
Parents karyotype |
|
|
||||
| 1 |
No |
46,XX.ish del(1)(p36.3) |
8 Mb (a) |
Normal |
| 2 |
No |
46,XY.ish der(2)t(2;22)(q37.2;q1?) |
NA |
Mother normal / father NA |
| 3 |
No |
46,XX.ish del(2)(q37.2) |
6.8 Mb |
Mother normal (e) / father NA |
| 4 |
No |
46,XX.ish del(4)(p16.1) |
Approx 4 Mb (d) |
Normal |
| 5 |
No |
46,XY/46,XY.ish der(22)t(12;22)(p13;p?) |
NA |
Normal |
| 6a,b |
Yes |
46,XX.ish der(13)t(5;13)(q35.2;q34) |
3.9 Mb (13qter) and 6.5 Mb (5qter) (b) |
Mother: 46,XX,t(5;13)(q35.2;q34) |
| 7 |
Yes |
46,XX.ish der(9)t(9;22)(q34.2;q13.3)nat |
4.1 Mb (9qter) and 5.7 Mb (22qter) (c) |
Father: 46,XY,t(9;22)(q34.2;q13.31) |
| 8 |
No |
46,XX.ish del(5)(q35) |
4–7 Mb (f) |
Normal |
|
(a),(b),(c), Cases 15, 16, 14, respectively, described by Schoumans et al. (2004); (d) also deleted for Wolf-Hirshhorn probe (Vysis ®); (e), Deletion D2S2986 polymorphism (see text for detail); (f), see text for detail; MR, mental retardation; NA, not analyzed. | ||||
Sogaard et al. BMC Medical Genetics 2005 6:21 doi:10.1186/1471-2350-6-21 |
||||