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Table 2 Detailed clinical data and karyotype results at the loss of genome

From: Clinical experience with multiplex ligation-dependent probe amplification for microdeletion syndromes in prenatal diagnosis: 7522 pregnant Korean women

Deletion region

   

Karyotype result

1p36.33

1 (2.4%)

  

46,XY,der(1)t(1;9)(p36.3;q34.3)mat,

2q23.1

1 (2.4%)

  

46,XY

4p16.3 (Wolf-Hirschhorn syndrome)

8 (19.5%)

  

46,XX,der(4)t(4;18)(p15.3;q11.2)mat

    

46,XX,der(4)t(4;6)(p12;q25)

    

46,XX,der(4)t(4;18)(p15.3;q11.2)mat

    

46,XX,del(4)(p14)

    

46,XX,del(4)(p16.1)

    

46,XX,add(4)(p15.2?)

    

46,XY,der(4)t(4;21)(p16.1;q22.2)pat

    

46,XX,del(4)(p15.2)

5p15(Cri du chat syndrome)

4 (9.8%)

  

46,XX,r(5)(?p15.5?q3

    

46,XX,del(5)(p13)

    

46,XX

    

46,XY,der(5)t(5;6)(p13.3;p21.3)mat

5q35.3(Sotos syndrome)

3 (7.3%)

  

46,XX or 46,XY

15q11.2(Prader willi syndrome)

1 (2.4%)

  

mos 45,X [12]/46,X,Yq

16p13.3(Rubinstein-Taybi syndrome)

2 (4.9%)

  

46,XX or 46,XY

22q deletion

21 (51.2%)

22q11.21(DiGeorge syndrome)

16 (39%)

46,XX or 46,XY

  

22q11.21 partial deletion

4 (9.8%)

46,XX,t(5;17)(q31.1;p13.3)

    

46,XX or 46,XY

  

22q13 partial deletion

1 (2.4%)

46,XY,t(17;18)(p13.3;q21.1)pat

Total

41

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