Table 5 Somatic mosaicism for non centromeric rearrangementin asymptomatic carriers, fortitous findings
Reference | Karyotype | Age at ascertainment | Proportion of abnormal cell line(s) | Indication for testing |
|---|---|---|---|---|
Balanced rearrangements | ||||
Kleszkowska et al., 1990 [21] (case 1) | 46,XY/46,XY,rcp(1;9)(p13.1;p12.2) | 27 yr | 50% BL | fortitous finding |
Schmid, Hatfield, 1962 [106] | 46,XX/46,XX, tan(2;13,14,or15)(p11.2; q26,32,or34) | 86 yr | 25% BL | a child and a grandchild with a different Rea |
Leegte et al., 1998 [83] | 46,XX/46,XX, t(3;7)(q26.2;p14) | 64 yo | 40 % BL | 46,XY son with two stillborn children |
de Pina Neto, Ferrari, 1980 [107] | 46,XX/46,XX,t(3;20) de novo | 6 yr | 54% BL | a sibs with a different maternal Rea |
Couzin et al., 1987 [108] | 46,XY/46,XY,t(7;14)(q32;q11) | adult | 8% BL | a child with trisomy 21 |
Kleszkowska et al., 1990 [21] (case 3) | 46,XX/46,XX,ins(14;13)(q24.1;q31.1q32.3 | 24 yr | 60% BL | trilogy of Fallot, 46,XY child with tetralogy Fallot |
Total | 2 males 4 females | Â | Â | Â |