Table 2 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 |