Table 2 |
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|
Cytogenetic and phenotypic data for subjects with X chromosome deletions. |
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| Subject |
age (yr) |
ovarian failure |
karyotype |
height SD score |
X inactivation ratio |
|
|
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| Xp deletions |
|||||
|
|
|||||
| 447 |
30 |
no |
46, XX |
-2.01 |
57:43 |
| 174 |
22 |
no |
46, X, der(X)t(X;acrocentric) (p22.3;p11.2)mat |
-2.59 |
71:29 |
| 175 |
40 |
no |
46, X, der(X)t(X;acrocentric) (p22.3;p11.2) |
-2.2 |
66:34 |
| 482 |
28 |
no |
46, X, del(X)(p22.33) |
-1.10 |
61:39 |
| 428 |
20 |
no |
46, X, del(X)(p22.33) in affected relative |
-0.82 |
51:49 |
| 430 |
47 |
no |
46, X, del(X)(p22.33) |
0.44 |
100:0 |
| 879 |
38 |
no |
46, XX in affected relative |
-2.4 |
not informative |
| 746 |
47 |
no |
46, X, del(X)(p22.3) |
-2.39 |
92:8 |
| 298 |
44 |
no |
46, X, del(X)(p22.33p22.33) in affected relative |
-0.70 |
65:35 |
| 157 |
42 |
no |
46, X, del(X)(p22.31p22.33) |
-0.75 |
100:0 |
| 217 |
29 |
no |
46, X, der(X)t(X;Y)(p22.3?1;q11.2) .ish der(X)KAL+STS+DYZ1+DYZ3-DYZ2- |
-2.77 |
93:7 |
| 702 |
39 |
no |
46, XX |
-1.68 |
75:25 |
| 466 |
49 |
no |
46, X, add(X)(p22.31) |
-0.61 |
60:40 |
| 439 |
31 |
yes |
46, X, der(X)t(X;Y)(p22.3;q11.2) |
-1.68 |
89:11 |
| 451 |
40 |
no |
46, X, der(X)t(X;Y)(p22.3;q11.2) |
-3.24 |
68:32 |
| 884 |
43 |
no |
46, X, der(X)t(X;X)(p22.1;q24) |
-2.25 |
100:0 |
| 144 |
36 |
no |
46, X, del(X)(p22.1) |
-3.2 |
100:0 |
| 46 |
34 |
no |
46, X, del(X)(p21.2) |
-0.8 |
100:0 |
| 122 |
17 |
yes |
46, X, del(X)(p21.2) |
-2.5 |
ND |
| 71 |
20 |
yes |
46, X, del(X)(p11.2) |
-1.1 |
100:0 |
| 211 |
20 |
yes |
46, X, del(X)(p11.23) |
-2.4 |
100:0 |
| 324 |
54 |
yes |
46, X, del(X)(p11.2) |
-3.42 |
100:0 |
| 539 |
23 |
yes |
46, X, del(X)(p11.22) |
-2.2 |
100:0 |
| 111 |
20 |
yes |
46, X, del(X)(p11.21) |
-1.1 |
ND |
| 85 |
45 |
yes |
46, X, del(X)(p11.2) |
-2.8 |
100:0 |
| 109 |
46 |
yes |
46, X, del(X)(p11.1) |
-3.9 |
100:0 |
| 315 |
23 |
yes |
46, X, der(X)t(X;1)(p11;q44)mat |
-3.19 |
100:0 |
| 105 |
31 |
yes |
46, X, der(X)t(X;1)(p11;q44)mat |
-3.18 |
100:0 |
|
|
|||||
| Xq deletions |
|||||
|
|
|||||
| 495 |
19 |
yes |
46, X, del(X)(q21.1) |
-0.86 |
100:0 |
| 383 |
24 |
yes |
46, X, der(X), t(X, X)(q13.1;p11.21) |
3.24 |
not informative |
| 340 |
26 |
yes |
46, X, rec(X)dup(Xp), inv(X)(p21q21) |
3.17 |
100:0 |
| 403 |
32 |
yes |
46, X, del(X)(q21.2) |
-2.22 |
100:0 |
| 785 |
37 |
yes |
46, X, del(X)(q22.2) |
0.35 |
100:0 |
| 140 |
37 |
yes |
46, X, del(X)(q21.2) |
2.9 |
100:0 |
| 173 |
48 |
yes |
46, X, del(X)(q13q27.2) |
0.73 |
100:0 |
| 475 |
20 |
yes |
46, X, del(X)(q21) |
-2.18 |
not informative |
| 162 |
40 |
yes |
46, X del(X)(q21.2) |
-2.45 |
100:0 |
| 540 |
18 |
yes |
46, X, der(X)t(X;Y)(q22;q11.2) .ish der(X)t(X;Y)(wcpX+, wcpY+) |
-1.98 |
100:0 |
| 218 |
35 |
yes |
46, X, del(X)(q22) |
-1.38 |
100:0 |
| 139 |
24 |
yes |
46, X, del(X)(q22) |
-1.7 |
100:0 |
| 184 |
31 |
no |
46, X, del(X)(q24) |
-1.53 |
100:0 |
| 314 |
32 |
yes |
46, X, del(X)(q25) |
0.88 |
100:0 |
| 172 |
34 |
yes |
46, X, der(X)t(X;13)(q22.3;q14.1) .ish der(X)t(X;13)(wcpX+;wcp13+) |
-0.73 |
100:0 |
| 192 |
29 |
yes |
46, X, del(X)(q21.2, q26) |
-1.72 |
100:0 |
| 207 |
44 |
yes |
46, X, del(X)(q22.3;q24) |
1.37 |
100:0 |
| 438 |
40 |
no |
46, X, del(X)(q24q26.1) |
0.53 |
100:0 |
| 164 |
38 |
no |
46, X, del(X)(q24q26) |
0.42 |
100:0 |
Zinn et al. Behavioral and Brain Functions 2007 3:24 doi:10.1186/1744-9081-3-24 |
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