Table 2 Somatic/gonadal mosaicism for non centromeric rearrangement in asymptomatic carriers with affected offspring
Reference | Karyotype | Carrier's age at birth of the proband | Proportion of abnormal cell line(s) | Indication for testing | |
|---|---|---|---|---|---|
Unbalanced rearrangements | |||||
N/del | |||||
Galan-Gomez et al., 1994 [37] | 46,XX/46,XX,del(5)(p14-pter) | ns | ns | children with 5p- syndrome | |
Johnson et al., 2000 [38] | 46,XY/46,XY,del(5)(p14) | ns | 100% BL, 99% SF | affected child with the same deletion | |
McDonald et al., 1988 [39] (family 3) | 46,XX/46,XX,del(5)(p14) | ns | ns | a child with del(5) | |
Niebuhr, 1978 [40] | 46,XX/46,XX,del(5)(p14) | ns | 5% BL, 3% SF | a child and fetus with the same Rea | |
Van Tuinen et al., 2001 [41] | 46,XX/46,XX,del(5)(p14.2) | ns | 4% BL | a child with cri-du-chat syndrome | |
Brandriff et al., 1988 [42] | 46, XX/46,XX,del(13)(q22q32) | ns | 0% BL, 0% SF a) | a chid and fetus with the same Rea | |
Michalova et al., 1982 [43] | 46,XX/46,XX,del(13)(q12->q31) | 18 yr | 3% BL | child with retinoblastoma | |
Kokkonen, Leisti, 2000 [44] | 46,XX/46,XX,del(15)(q11q13) | ns | 0% BL b) | two affected children | |
Rump et al., 2008 [45] | 46,XX/46,XX,del(15)(q26.2->qter) | ns | 0% BL b) | two children with del(15) | |
Sanchez et al., 2014 [46] | 46,XX/46,XX, del(15)(q11.2q13) | ns | 0% BL, 0% normal SF, 35% hypopigmented SF | dyzygotic twins with Angelman syndrome | |
Hoo et al., 1985 [47] | 46,XX/46,XX,del(16)(q11.1q12.1) | 22 yr | 0% BL, 0% SF c) | two children with del(16) | |
Garcia-Heras et al., 2005 [48] | 46,XX/46,XX,del(20)(p11.1p12) | 33 yr | 25% BL | child with the same deletion | |
N/dup | |||||
Eussen et al., 2007 [49] | 46,XX/46,XX,inv dup(2)(q34q33) | 28 yr | 19% BL | two children with the same Rea | |
Bernardini et al., 2005 [50] | 46,XX/46,XX,dup(4)(p15p15) | young | 30% BL, 20-25% different tissues | three abortions with the same Rea | |
Toska et al., 2010 [51] | 46,XX/46,XX,dup(4)(q22.2q23) | 24 yr | 0% BL b)* | two siblings with dup(4) | |
Fan et al., 2001 [52] (family 2) | 46,XY/46,XY,dup(8)(p21.3p23.1) | ns | 20% BL | two children with the same Rea | |
Tonk et al., 1996 [53] | 46,XX/46,XX,dir dup(10)(q24.2->q24.3) | ns | 10% | two children with dup(10) | |
Hocking et al., 1999 [54] | 46,XY/46,XY,dup(13)(q32q34) | ns | ns | a child with the same Rea | |
Babovic-Vuksanovic et al., 1998 [55] | 46,XX/46,XX,dup(17)(q24q25.1) | 16 yr | 29% BL | recurrent abortins, two children with dup(17) | |
Flowers et al., 2015 [56] | 46,XX/46,XX,dup(18)(q12.1q21.1) | 38 yr | 20% BL | a fetus with the same Rea | |
N/ring | |||||
Meza-Espinoza et al., 2008 [57] | 46,XY/46,XY, r(17) | ns | 4% BL | a child with multiple anomalies with the same Rea | |
Fryns et al., 1992 [58] | 46,XX/46,XX,r(18)(p11.3q23) | 26 yr | 8% BL | polymalformed child with r(18) | |
Flejter et al., 1996 [59] | 46,XX/46,XX,r(19) | 27 yr | 4% BL | affected child with the same Rea | |
Phelan, 2008 [60] | 46,XX/46,XX,r(22) | ns | ns | affected child with the same Rea | |
N/t unbalanced | |||||
Engel et al., 2001 [61] | 46,XX/46,XX,psudic(5;21)(q12.p13) | young | 0% BL, 0% SF b) | two children with psudic (5;21) | |
Kouru et al., 2011 [62] | 46,XX/45,XX,psu dic(5;22)(p15.p11.1) | ns | 0% BL, 5% SF | a child and a fetus with the same Rea | |
Gijsbers et al., 2011 [63] (case 2) | 46,XX/46,XX,der(22)t(8;22)(q24.2;p10) | ns | 52% BL | affected daughter with the same Rea | |
Papenhausen et al., 1991 [64] | 46,XX/46,XX,der(21)t(21;21;)(p11;q22.1) | 29 yr | 30% BL | a child with the same Rea | |
N/other rea | |||||
Al Arrayed, 1998 [65] (case 10) | 46,XY/46,XY,multiple rea(2) | ns | ns | three abnormal children | |
Eckel et al., 2006 [66] | 46,XX/46,XX,trp(12)(pter->p11.22->p12.3::p12.3->qter) | ns | 12% BL | affected child with the same Rea | |
Masada et al., 1989 [67] | 46,XY/46,XY, del(14)(q32.11->qter)/46,XY,dup(14)(q32.11->qter) | ns (mother 31 yr) | 0% BL ,0% SF d) | a child with del(14), a child with dup(14) | |
Insley et al., 1968 [68] | 46,XX/46,XX,Dq+ | 22 yr | 2% BL, 3% SF | two daughters with the same Rea | |
D'Angelo et al., 2010 [69] | 46,XX/46,XX,del(20)(p11.21)dup(20)(p11.21.p13) | 23 yr | 15% BL | affected daughter with the same Rea | |
Total | 6 males 27 females | ||||
Balanced rearrangements | |||||
N/inv | |||||
Shapira et al., 1997 [22] | 46,XY/46,XY,inv(9)(p24q34.1) | 25 yr | 25% BL | a child with recombinant 9p aneusomy | |
Wang et al., 2010 [70] | 46,XY/46,XY,inv(20)(p12.2q13.33) | 35 yr | 50% BL | two children with recombinant chromosome 20 | |
N/t balanced | |||||
Aurias et al., 1978 [71] | 46,XX/46/XX,t(2;4)(q37;q28) | ns | ns | a child with der(4) t(2;4)(q37;q28) | |
Becker, Albert, 1963 [72] | 46,XY/45,XY,nonacrocentric t(2;21) | 23 | 55% BL | neurofibromatosis, a child with Down syndrome | |
Gardner et al., 1994 [73] (case 7) | 46,XX/46,XX,rcp(5;18)(p15;q21) | ns | 0,1% BL, 0% SF | a child with der (18) | |
Simonova et al., 2005 [74] | 46,XY/46,XY,t(5;20)(p12;q13) | ns | 8% BL | a child with del(5) | |
Sciorra et al., 1992 [75] | 46,XY/46,XY,t(7;14)(q36;q1?) | ns (mother 31 yr) | 0.5% BL, 0% SF | a child with 7q+ | |
Opheim et al., 1995 [76] (case 2) | 46,XX/46,XX,t(8;13)(p23.2;q21.2) | ns | 57% BL | a child with der(8)t(8;13) | |
Yatsenko et al., 2009 [77] | 46,XX/46,XX,ins(12)(q12p11.1p13.1) | ns | 50% BL | two children with Noonan syndrome and the same Rea | |
Total | 5 males 4 females | ||||