| Translocation |
Clinical Features |
X Chromosome Breakpoint |
Autosomal Breakpoint |
X Inactivation Pattern (Xw.Xm) |
| X;1 |
|
Xp21-2 |
1p34 or 34-3 |
100:0 (L)* |
| X;2 |
|
Xp21 |
2q14 |
|
| X;2 |
Moderate mental retardation |
Xp21-2 |
2q37-3 |
|
| X;3 |
|
Xp21 |
3q27 |
|
| X;3 |
Mental retardation, dysmorphisms |
Xp21-2 |
3q13-2 or 3q13-32 |
95:5 (L)* |
| X;4 |
|
Xp21-1 |
4q26 |
100:0 (L)* |
| X;4 |
|
|
|
|
| X;4 |
|
|
|
|
| X;5 |
Moderate mental retardation |
Xp21-2 |
5q31-1 |
100:0 (L)* |
| X;5 |
|
Xp21-1 |
5q35-3 |
100:0 (F)* |
| X;5 |
|
Xp22 |
q32 |
95:5 (L)* |
| X;6 |
|
Xp11 |
q21 |
100:0 (L)* |
| X;6 |
|
Xp21 |
6q16 |
|
| X;6 |
|
Xp21-2 |
6q21 |
99:1 (L)* |
| X;7 |
|
Xp22 |
p11.1 |
99:5 (L)* |
| X;8 |
Mild |
Xp21-1 |
8q24-3 |
80:20 (L)* |
| X;9 |
Tumer S; Epilepsy; mental retardation |
Xp21 (Extreme proximal) |
9p21 (Extreme proximal) |
100:0 (L)* |
| X;9 |
Moderate mental retardation |
Xp21-2 |
9p22-3 |
98:2* |
| X;11 |
|
Xp21-1 |
11q13-5 |
|
| X;11 |
Mild |
Xp21-2 |
11q23-3 |
Xn inactivated (L)* |
| X;15 |
|
Xp21 |
15q26 |
93:7 (L); 95:5 (F)* |
| X;21 |
Mild |
Xp21-1 |
21p12 |
99:1 (L); 95:5 (F)* |
| X;22 |
|
Xp21 |
22q13 |
|
| X;22 |
|
Xp22.1 |
p11.1 |
100:0 (L)* |
| X;3 |
DMD phenotype |
Xp21 |
p24 |
72.5:27.5 (L; M); 100:0 (L) |
*XCI evaluated by BrdU technique of Hagemeijer et al. (1976) and following modifications (Panasiuk et al. 1997) L, F, M= X inactivation analysis on fibroblasts,
lymphocytes or muscle cells respectively |
