Table 3 Somatic/gonadal mosaicism for non centromeric rearrangement in asymptomatic carriers with unaffected offspring

Tinkel-Vernon et al., 2001 [78]

46,XY/46,XY,del(21)(q11.2->q21)

ns

50% BL

normal son with the same Rea

Mazzaschi et al., 2011 [79]

46,XX/46,XX,r(21)

40 yr

30% BL

normal child with the same Rea

Total

1 male 1 female

Kleczkowska et al., 1990 [21] (case 1)

46,XY/46,XY,t(1;9)(p13.1;p12.2)

ns

50% BL

Two healthy children the same Rea

Zackovsi et al., 1995 [80]

46,XY/46,XY,inv(1)(p31.2p34.3)

ns

28% BL

normal child with inv(1)

Heil et al., 1997 [81] (case 1)

46,XY/46,XY,t(2;3)(q37;q21)

ns

19% BL

a fetus with t(2;3)

Farrell, 1991 [82] (case 2)

46,XX/46,XX,rcp(5;18)(q35;q21.3)

ns

28% BL

46,XY, t(5;18) son with reproduction failure

Leegte et al., 1998 [83] (case 1)

46,XX/46,XX,t(9;15)(q12;p11.2)

ns

32% BL

46,XY, t(9;15) son with infertility

Dupont et al., 2008 [84]

46,XX/46,XX,t(9;22)(q34.3;q13.3)

ns

50% BL

affected grandchild with 46,XY,der(22)t(9;22) (q34.3;q13.3)

Storto et al., 1999 [85]

46,XY/46,XY,10qs

ns

60% BL

normal child with 10qs

Gardner et al., 1994 [73] (case 12)

46,XX/46,XX,rcp(11;22)(q23;q21)

ns

62% BL

a grandchild with der(22)t(11;22)

Total

4 males 4 females