Skip to main content

Table 4 The findings of karyotyping in 1452 pregnant women

From: Application of chromosome microarray analysis and karyotyping in diagnostic assessment of abnormal Down syndrome screening results

No

Karyotype results

Known syndromes

Inheritance

1–31

47,--,+ 21

Down syndrome

de novo/NA

32

46,--,rob(14;21)(q10q10),+ 21

Down syndrome

NA

33

mos 47,--,+ 21[39]/46,--[48]

Down syndrome(mosaic)

de novo

34–36

47,--,+ 18

Edwards syndrome

de novo

37–40

47,XXX

47,XXX syndrome

de novo

41

47,XXY

Klinefelter syndrome

NA

42

45,X

Turner syndrome

de novo

43

mos 45,X[61]/47,XXX[15]

Turner syndrome(mosaic)

de novo

44

mos 45,X [7]/46,XX[127]

Turner syndrome(mosaic)

de novo

45

mos 45,X [15]/46,XY[135]

Turner syndrome/Hermaphroditism

de novo

46

mos 47,XXX [13]/46,XX[140]

47,XXX syndrome(mosaic)

NA

47

46,--,dup(11)(q22.2q23.1)

/

de novo

48

46,--,der(4)t(4;17)(p16;p11.2)

/

father

49

46,--,del(17)(p11.2p11.2)

Smith-Magenis Syndrome

NA

50

mos 47,--,+psu idic(9)(q21.11) [13]/46,--[54]

/

NA

51

46,--,der(5)t(5;9)(p15.1;p22)

Cri-Du-Chat syndrome

father

52

47,--,t(7;18)(p21;q11.2),+mar

/

mother

53

45,--,rob(14;22)(q10;q10)

/

father

54

46,--,t(2;20)(p23;q13.1)

/

father

54

46,--,t(7;12)(q21.2;p13.1)

/

mother

56

46,--,t(17;20)(q21;q11.2)

/

mother

57

mos 46,--t(3;6)(q11.2;q25) [9]/46,--[43]

/

de novo

  1. Case No 1–4, 32, 37, 38, 42, 44, 45, 47, 52, 53, 56, 57: abnormal serum screening group, the rest ones: enlarged NT group