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Table 5 Mosaic Alterations Detected in the Prospective Diagnostic Comparison.

From: Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH

Pt. #

Proportion (%)

Classification

BAC

25885

10

45,X

25838

10

47,XX,i(12)(p10)

27745

10

46,XY,trp(12)(p13.33p10)

26912

18

47,XY,i(8)(p10)

26358

20

46,XX,dup(2)(p14p11.2)

26880

24

47,XX,+9

23302

27

47,XX,+der(9)(p21.2q11)

23919

46

47,XY,+der(12)(p13.33q11)

26127

53

46,XY,del(18)(q22.3q23)

26750

57

47,XY,+der(8)(p11.22q11)

26894

60

45,X

24887

70

46,XX,der(14)dup(14)(q32.13q32.2)del(14)(q32.3q32.33)

23159

70

47,XYY

23155

77

46,XX,idic(18)(q21.33)

23215

87

47,XX,+21

25862

93

48,XX,+der(13)(pterq12.12),+der(20)(p11.21q11)

Oligo

27978

21

48,XY,+der(13)(pterq12.11),+der(?)(?::Xp22.31->Xp22.31::Xp22.2->Xp22.12::?->cen->?)

32047

27

47,XXY

32374

27

46,XX,r(X)(p11.1q21.1)

32875

33

47,XY,+inv dup(22)(q11.21)

29361

53

47,XX,+der(11)(p11.2q11)

31439

63

47,XY,+der(12)(:p13.33::p13.31->p13.2::p11.23::p11.22->p11.21::?->12cen->?::p11.21->p11.22::p11.23::p13.2->::p13.31::p13.33:)

31633

63

48,XX,+der(4)(p13q12),+der(13)(pterq12.11)

30028

77

46,XY,del(7)(q22.1q22.3),del(12)(q21.31q22)

31336

80

46,XX,idic(X)(q21.1)

27105

90

47,XX,+der(13)(pterq12.12)

29786

90

46,X,+der(X)(p11.21q11.1)

30218

93

47,XY,+der(17)(p11q11.2)