Table 2

Summary of the results of array-MLPA and karyotype analysis

Sample ID

Array-MLPA

Karyotype

Sample type


N1-N53

Normal 13, 18, 21, X, Y

46,XY

N54-N85

Normal 13, 18, 21, X

46,XX

B1-B4

Monosomy X

45,X

B5-B6

Monosomy X+TSPY signals

45,X/45,X,+mar?

B7

Monosomy X+RBMY, TSPY signals

45,X/46,XY

B8-B9

Monosomy X+ RBMY, TSPY signals

45,X/46,XY(Yq-?)

B10

Abnormal monosomy X (XR = 0.71)

45,X/46,X,i(X)(q10)

B11

Abnormal monosomy X (XR = 0.72)

45,X/47,XXX

Blood

B12-B29

Trisomy 21 (21R = 1.36 to1.62)

47,XX,+21

B30

Normal 13, 18, 21, X, Y

46,XY,rec(14)(18qter→18q22::14qter)pat

B31-B72

Trisomy 21 (21R = 1.37 to1.56)

47,XY,+21

B73

Male with extra X

47,XXY

B74

Normal 13, 18, 21, X

46,XX,-14,+t(14;21);(p11.2;p11.2)

B75

Normal 13, 18, 21, X, Y

46,XY,inv(9)(p12q21)

B76

Normal 13, 18, 21, X, Y

46,XY,t(1;7)(p36.3;p13)


A1-A4

Trisomy 21 (21R = 1.38 to1.52)

47,XX,+21

Amniotic fluid

A5-A9

Trisomy 21 (21R = 1.38 to1.53)

47,XY,+21

A10-A11

Male with extra X (XR = 0.85, YR = 0.51)

47,XXY

A12

Normal 13, 18, 21, X, Y

46,XY


Yan et al. BMC Medical Genetics 2011 12:68   doi:10.1186/1471-2350-12-68

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