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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