Table 2 Summary of the results of array-MLPA and karyotype analysis

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 (X_R = 0.71)

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

B11

Abnormal monosomy X (X_R = 0.72)

45,X/47,XXX

Blood

B12-B29

Trisomy 21 (21_R = 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 (21_R = 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 (21_R = 1.38 to1.52)

47,XX,+21

Amniotic fluid

A5-A9

Trisomy 21 (21_R = 1.38 to1.53)

47,XY,+21

A10-A11

Male with extra X (X_R = 0.85, Y_R = 0.51)

47,XXY

A12

Normal 13, 18, 21, X, Y

46,XY