Table 1.
Karyotypes and Mode of Ascertainment of the Normal Study Population
| Case1 | Karyotype | Ascertainment | Previous Description |
|---|---|---|---|
| 1A | 46,XY,t(2;14)(p21;q13)de novo | Parent of a 46,XX,t(2;14)(p21;q13) miscarriage | |
| 1B | 46,XX,t(3;9)(p26.2;p22.3)de novo | Parent of a 46,XY,add(3)(p25.3) clinically affected child | |
| 1C | 46,X,t(X;7)(?q27;q22)de novo | Parent of a 46,X,Xq+ clinically affected child | |
| 1D | 46,XX,t(10;18)(q24.3;q12.2)mat | Relative of 46,XY,t(10;18)(q24.3;q12.2) ascertained prenatally because of high serum screen risk | case 12 in Baptista et al.(2005) |
| 2A | 46,XX,t(4;16)(q35.1;p13.13)de novo | Parent of a clinically affected child presenting a rea(4) | |
| 2B | 46,XX,t(1;13)(q32.3;q32.3)de novo | Parent of a 46,XY,13q+ clinically affected child | |
| 2C | 46,XY,t(2;18)(q35;q21.3)de novo | Recurrent miscarriages | |
| 2D | 46,XX,t(2;9)(q21.3;p13)de novo | Parent of a 46,XX,t(2;9)(q21.3;p13) amniocentesis because of advanced maternal age | |
| 2E | 46,XX,t(7;17)(q36.1;q25.1)de novo | Recurrent miscarriages | |
| 2F | 46,XY,t(8;15)(p11.2;q24)de novo | Parent of a 46,XY,t(8;15)(p11.2;q24) amniocentesis because of advanced maternal age | |
| 2G | 46,XY,t(1;13)(p22;q32)de novo | Parent of a 46,XY,t(1;13)(p22;q32) clinically affected child | |
| 2H | 46,XY,t(11;21)(p15.4;p12)de novo | Parent of a clinically affected child presenting a paternal dup(11) | |
| 2I | 46,XX,t(2;7)(p23.3;p22.3)de novo | Prenatal for advanced maternal age | case 1 in Baptista et al.(2005) |
| 2J | 46,XX,t(11;17)(p13;p13.1)mat | Parent of a 46,XY,t(11;17)(p13;p13.1) clinically affected child | case 2 in Baptista et al.(2005) |
| 2K | 46,XX,t(7;16)(p15;q22)mat | Recurrent miscarriages | case 4 in Baptista et al.(2005) |
| 2L | 46,XY,t(8;16)(q22.1;q13)pat | Sibling of a 46,XX,t(8;16) (q22.1;q13) girl ascertained because of delayed puberty | case 5 in Baptista et al.(2005) |
| 2M | 46,XX,t(16;18)(q24;q21.1)mat | Recurrent miscarriages | case 7 in Baptista et al.(2005) |
| 2N | 46,XX,t(5;18)(p13;q11)pat | Relative of 46,XX,t(5;18)(p13;q11)pat amniocentesis because of family history of Down syndrome. | case 9 in Baptista et al.(2005) |
| 2O | 46,XY,t(1;11)(q42.3;q21)pat | Parent of 46,XX, t(1;11)(q42.3;q21) amniocentesis because of family history of Down syndrome. | case 10 in Baptista et al.(2005) |
| 2P | 46,XX,t(3;10)(p23;q21.2)pat | Relative of a 46,XY,t(3;10)(p23;q21.2) clinically affected child | case 11 in Baptista et al.(2005) |
| 3A | 46,XX,t(4;6)(q27;p25)de novo | Recurrent miscarriages | |
| 3B | 46,XX,t(8;12)(p23.1;p13.1)de novo | Parent of a 46,XY, add(8)(p23.1) clinically affected child | |
| 3C | 46,XX,t(6;9)(q22.2;p22.3)de novo | Recurrent miscarriages | |
| 3D | 46,XY,t(2;4)(p23;p12)de novo | Recurrent miscarriages | |
| 3E | 46,X,t(X;22)(p11.23;q13.1)de novo | Parent of a 46,X,t(X;22)(p11.23;q13.1) amnio because of family history of Down syndrome | |
| 3F | 46,XX,t(11;15)(q23;q22)de novo | Parent of a 46,XY,t(11;15)(q23;q22) amnio because of advanced maternal age | |
| 3G | 46,XX,t(2;6)(q32.2;p23)de novo | Recurrent miscarriages | |
| 3H | 46,XX,t(6;22)(p21.3;q13)pat | Parent of a 46,XX,del(15)(q11q12) clinically affected child | case 3 in Baptista et al.(2005) |
| 3I | 46,XX,t(1;19)(q42.13;p13.2)mat | Recurrent miscarriages | case 6 in Baptista et al.(2005) |
| 3J | 46,XX,t(9;20)(p24.1;p11.2?3)mat | Parent of a 46,XY,der(9)t(9;20)(p24.1;p11.2?3) clinically affected child | case 8 in Baptista et al.(2005) |
| 3K | 46,XY,t(2;3)(p23.1;q29)mat | Relative of a 46,XX,der(3)t(2;3)(p23.1;q29) clinically affected child | case 13 in Baptista et al.(2005) |
1
Prefix 1 refers to cases with no genes at the breakpoints. Prefix 2 indicates cases with obligatory breakpoint-mediated gene disruption. Prefix 3 refers to cases with potential breakpoint-mediated gene disruption.