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Table 7 Autosome rearrangements in patients with reproductive failure

From: Somatic/gonadal mosaicism for structural autosomal rearrangements: female predominance among carriers of gonadal mosaicism for unbalanced rearrangements

Groups

No. of carriers of non mosaic rearrangement

Balanced nonmosaic rearrangements, n (%)

Other non mosaic rearrangements

Mosaicism for structural rearrangement excluding SCM

Source

Reciprocal translocation

Robertsonian translocation or isochromosome

Inversion

Non centromeric rearrangement

Centromeric rearrangement

Couples with infertility (n=27,168)

Males (n=13,573)

156

63

70

20

1

 

2 (rob)

[93, 105, 109–117]

Females (n=13,595)

111

51

22

36

2

  

Sex ratio

1.2

3.8

0.6

   

Patients with infertility (n=3,208)

Males (n=2,196)

44

20

18

3

1

3 (2 rcp, 1 inv)

 

[96]

Females (n=1,012)

21

7

7

7

   

Patients and couples with infertility, total (n=30,376)

Males (n=15,769)

196 (1.3%)

83 (0.53 %)

88 (0.56%)

23 (0.15%)

2

3 (2 rcp, 1 inv)

2 (rob)

 

Females (n=14,607)

132 (0.9%)

58 (0.4%)

29 (0.2%)

43 (0.29%)

2

   

Couples with repeated miscarriages (n=26,384)

Males (n=13,192)

187 (1.5%)

113 (0.86%)

54 (0.41%)

19 (0.14%)

1

5 ( 4 rcp, 1 inv)

 

[15, 18, 57, 89, 105, 117–126]

Females (n=13,192)

318 (2.5%)

203 (1.54%)

94 (0.74%)

18 (0.14%)

3

3 (1 rcp, 1 inv, 1 del)

 
 

Sex ratio

0.56

0.56

1.1

   

Combined data

56,760

833

439

262

101

8

11 (7 rcp, 3 inv, 1 del)

2 (rob)

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