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Table 1 Ranking of diseases for DNA mutation analysis and karyotyping

From: Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?

Disease

N

Normal karyotype

≥ 36 years

Abnormal karyotype

Abnormal karyotype (≥ 36 years)

Case no.

    

(< 36 years)

  

Fragile X syndrome

57

57

9

   

Huntington's disease

39

37

6

2

 

1,9

Duchenne muscular dystrophy

33

32

6

 

1

2

Spinal Muscular Atrophy

30

27

14

 

3

5,6,13

Myotonic dystrophy

29

26

5

2

1

3,11,1

Hurler syndrome

8

7

2

1

 

4

Spondyloepiphyseal dysplasia

7

6

1

1

 

12

Hemophagocytic lymphohistiocytosis

5

4

1

1

 

18

Monoamine oxidase A deficiency

5

4

2

1

 

10

X-linked MR

5

4

 

1

 

17

Paternity testing

3

2

2

 

1

19

Wilms tumors

3

2

1

 

1

15

Canavan disease

2

1

2

 

1

7

Nonsyndromic hearing loss

2

1

 

1

 

16

Nail-patella syndrome

1

0

 

1

 

8

Other diseases

271

271

56

   

Total

500

481

117

11

8

 
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Molecular Cytogenetics

ISSN: 1755-8166