Table 1 Saawomatic/gonadal mosaicism for non centromeric rearrangement in affected carriers with affected offspring

N/del

Freitas et al., 2012 [25]

46,XX/46,XX,del(2)(q36.1q36.3)

23 yr

90% BL, 10% DNA

mild presentation of MFDH; a child with the same Rea

Naritomi, Hirayama, 1989 [26]

46,XX/46,XX,del(8)(q23.3q24.13)

34 yr

50%

mild trichorhoniphalangeal syndrome I in the mother, a child with the same Rea

Magenis et al., 1989 [27]

46,XX/46,XX,del(9q31.3)

ns

ns

mild mental retardation, affected child with the same Rea

Zori et al., 1993 [28] (patient B)

46,XX/46,XX,del(17)(p11.2p12)

30 yr

55% BL

partially affected, a child with SMS

N/dup

Cox et al., 2002 [29]

46,XX/46,XX,dup(7)(?p15.3?p22)

40 yr

83% BL

global intellectual impairment, rebellious behavior, craniofacial dysmorphism, a child with the same Rea

Kennedy et al., 2001 [30]

46,XY/46,XY, dup(8)(p23.1p23.1)

ns

68% BL

congenital heart defect, a child with the same Rea

Pfeiffer and Schutz, 1993 [31]

46,XX/46,XX,dir dup(11)(q23->qter)

26 yr

19% BL

mildly retarded; a dysmorphic child with the same Rea

Barber et al., 2006 [32] (family 1)

46,XX/46,XX, inv dup ins(16)(q11.2q13q11.2)

33 yr

52% BL

developmental delay and phenotypic abnormality, affected child with the same Rea

Moog et al., 1994 [33] (patient B)

46,XX/46,XX,dup18(pter->cen)

26 yr

80% BL

dysmorphic, slightly mentally retarded, son with dup(8)

N/ring

Fryns, Van den Berghe, 1979 [34]

46,XX/46,XX,r(22)/45,XX,t(15q21q)

21 yr

32%/65% BL, 19%/24% SF

slightly mentally retarded, a child with the same Rea

N/t unbalanced

De Pater et al., 2003 [35]

46,XX,der(18)t(18;21)(q21.3;p12)/46,XX,der(21)t(18;21)(q21.3;p12) ^a

37 yr

47%/53% BL

very mild phenotypic abnormalities, a child with 18q- syndrome

N/other rea

Galjaard et al., 2003 [36]

46,XY/46,XY, t(4;7)(p15.2;q35), microdeletions at both der(4) and der(7)

ns

70% BL, 96% SF

isolated postaxial polydactyly, affected child with the same Rea

Total

2 males 10 females