Skip to main content

Advertisement

Table 2 Cytogenetic and phenotypic data for subjects with X chromosome deletions.

From: A Turner syndrome neurocognitive phenotype maps to Xp22.3

Subject age (yr) ovarian failure karyotype height SD score X inactivation ratio
    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