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Table 3 Abnormal karyotypes in different indication for prenatal genetic diagnosis

From: Cytogenetic analysis of 3387 umbilical cord blood in pregnant women at high risk for chromosomal abnormalities

Abnormal karyotypes

I

II

III

IV

V

VI

VII

 Trisomy 21

18

10

3

12

 

13

3

 Trisomy 18

3

11

 

2

 

1

 

 Trisomy 13

1

    

1

 

 45,X

 

2

     

 47,XXX

4

 

1

    

 47,XXY

1

1

1

2

1

1

 

 47,XYY

1

 

3

1

 

1

 

 48,XXXX

1

      

Marker chromosome

  

3

    

 Mosaic

1

4

10

2

1

1

 

 Translocation

 

3

1

9

1

1

 

 Inversion

 

2

1

19

1

1

2

Derivative chromosome

1

5

 

1

   

 Deletion

 

1

 

2

1

1

 

 Duplication

 

1

     

 Additio

 

3

   

1

1

 Others

 

2

     
  1. I, NIPT positive; II, Ultrasonographic structural abnormal findings (USAF); III, Karyotype confirmation after amniocentesis (KCAA); IV, Ultrasound soft markers; V, Either mother or father with chromosomal abnormality (EMFCA); VI, Advanced maternal age; VII, Abnormal MSS
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Molecular Cytogenetics

ISSN: 1755-8166