Skip to main content

Table 1 Clinical data of patients and FISH results

From: No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patients with Williams-Beuren syndrome as compared to a population control

Samples

Parameters for FISH analyses

n

With

inversion

With

inversion

%

P-value

Female

carrier

Male

carriers

WBS parents II

Couples with a WBS child

24

5

20.8

 

1*

5*

Control group I

Couples with two healthy children

24

2

8.3

0.42

0

2

Control group II

Couples with fertility problems, planning ICSI

16

4

25.0

1.00

1

3

Control group III

Couples with two healthy children and one child with a

chromosome aberration (region 7q11.23 not involved)

11

1

9.1

0.64

1

0

Control groups (I-III)

 

51

7

13.7

 

2

5

      

3

10

  1. *In one couple both of the father and the mother carried a paracentric inversion polymorphism at 7q11.23