Table 4 Somatic mosaicism for non centromeric rearrangement in asymptomatic carriers with poor reproductive history

N/del

D'Alessandro et al., 1992 [86]

46,XX/46,XX,del(6)(p23)

ns

11% BL

recurrent abortions and idiopathic hyporpolactinemia

Reddy, 1999 (case 3) [87]

46,XX/46,XX,del(8)(p23.1)

29 yr

22% BL

recurrent SA

Kleczkowska, Fryns, 1990 [88]

46,XX/46,XX,del(11)(:q14.2->q23.2:)

28 yr

25% BL

recurrent SA

Dutta et al., 2011 [89]

46,XX/46,XX,del(17)(q)

ns

ns

recurrent miscarriage

Sachs et al., 1985 [90]

46,XX/46,XX,del(20)(p12)

ns

22%

recurrent SA

N/dup

Somprasit et al. 2004 [91]

46,XY/46,XY,dup(21q22.13-q22.2)

33 yr

0% BL, 7% sperm

recurrent SA

N/ring

Lee, 2002 [92]

46,XX/46,XX,r(4)/45,XX,-4/46,XX,dic r(4)/47,XX,r(4),+r(4)

27 yr

75%/8%/5%/4%

infertility and short stature

Scholtes et al., 1998 [93]

46,XX/46,XX,r(14)

ns

ns

infertility, pre-ICSI testing

Tarlatzis et al., 2000 [94]

46,XX/46,XX,r(14)

ns

ns

infertility

Hammoud et al., 2009 [95]

46,XY/46,XY,r(21)/45,XY, −21

ns

95%/3% BL, 7%/0% sperm

infertility, pre-ICSI testing

Total

2 males 8 females

N/inv

Gekas et al., 2001 [96]

46,XY/46,XY,inv(10)(p11q21)

ns

39%

sterility, candidate for ICSI

Kleszkowska et al., 1990 [21] (case 4)

46,XX/46,XX,inv(12)(q12q24)

25 yr

90%

two SA

De la Fuente-Cortes et al., 2009 [15]

46,XY/46,XY,inv(14q)

ns

6% BL

repeated miscarriages

N/t balanced

Stenchever et al., 1977 [97]

46,XX/46,XX.t(1;2)

27 yr

50% BL

habitual abortion

Stenchever et al., 1977 [97]

46,XX/46,XX,t(1;16)

23 yr

50% BL

habitual abortion

Northup et al., 2007 [98]

46,XX/46,XX,psu dic(1;19)(q10;q13.42)

27 yr

10% BL, 0% SF

premature ovarian failure

De la Fuente-Cortes et al., 2009 [15]

46,XX/46,XX, t(1p;21q)

ns

2% BL

repeated miscarriage

Almeida et al., 2012 [99]

46,XY/46,XY,t(2;2)(p23;q21.2)

31 yr

100% BL, 84% sperm

infertility, one SA

Lebbar et al., 2008 [100] (patient 2)

46,XY/46,XY,t(2;4;12)

40 yr

30% BL

secondary infertility, severe oligoasthenospermia, necrospermia, leucospermia, teratospermia, one child (not tested)

Stenchever et al., 1977 [97]

46,XX/46,XX,t(2;7)

19 yr

75%

habitual abortion

Stenchever et al., 1977 [97]

46,XX/46,XX,t(2;8)

24 yr

50%

habitual abortion

Shaham et al., 1992 [101]

46,XX/46,XX,t(2;16)(p23;q24)

ns

ns

recurrent SA

Cantu and Ruiz, 1986 [102]

46,XY/46,XY, t(3;4)(q22;q35)

ns

ns

recurrent SA

Farrell, 1991 [82] (case 1)

46,XX/46,XX,t(3;6)(q13.2;q25.3)

ns

9%

recurrent SA

Sciorra et al., 1985 [103]

46,XX/46,XX,t(4;5)(4pter->4q21::5q32->5qter;5pter->5q34::4q21->4qter)

ns

17-24% BL, 0% SF

infertility, one miscarriage

De la Fuente-Cortes et al., 2009 [15]

46,XY/46,XY,t(4q;9q)

ns

2% BL

recurrent SA

Meza-Espinoza et al., 2008 [57]

46,XY/46,XY,t(5;16;17)

ns

16% BL

habitual abortion

Kleszkowska et al., 1990 [21] (case 2)

46,XY/46,XY,rcp(9;13)(p21;q13)

29 yr

70%

repeated miscarriage

Tuerlings et al., 1998 [104]

46,XY/46,XY,t(9;20)(p22;p13)

ns

ns

two SA at 1st trimester

Lebbar et al., 2008 [100] (patient 1)

46,XY/46,XY,t(12;14;12;9)(q13;q32;p13;q32)

52 yr

20% BL

secondary infertility, variable moderate oligospermia, two healthy children

Gekas et al., 2001] [96]

46,XY/46,XY,t(10;13)(p13.2;q21)

ns

19% BL

sterility, candidate for ICSI

Gekas et al., 2001 [96]

46,XY/46/XY,t(11;19)(p11.2;q12)

ns

79% BL

sterility, candidate for ICSI

Clementini et al., 2005 [105]

46,XY,/46,XY,t(15;20)

ns

3% BL

sterility, candidate for ICSI

Total

13 males 10 females