Table 1.
Summary of the seven patients with large rearrangement missed by karyotype
| Patient code (Decipher) | Gender | Array-CGH (GRCh37/hg19) | Minimal region (Mb) | de novo /inherited | Cell source for karyotype | |
|---|---|---|---|---|---|---|
| 1 | DGT283320 | M | arr 10q26.13q26.3(124,500,982-135,404,471)x1, 12q24.31q24.33(125,178,836-133,819,092)x3 | 10.9: 8.6 | maternal translocation | Amniocytes |
| 2 | DGT283326 | F | arr 11q24.3q25(128,728,456-134,868,407)x1, 20q13.3(58,442,781-62,893,189)x3, | 6: 4.4 | de novo | Periph. Blood |
| 3 | DGT283327 | M | arr 4q34.1q35.2(172,930,618-190,896,674)x3, 9p24.3p23(271,257-12,907,826)x1, 14q21.1(43,881,311-44,623,069)x3 | 18: 12.6: 0.74 | maternal translocation | Periph. Blood |
| 4 | DGT283328 | M | arr 10p15.3p13(148,206-12,211,671)x1, 12q24.31q24.33(121,572,578-133,767,986)x3 | 12: 12.2 | paternal translocation | Periph. Blood |
| 5 | DGT283329 | M | arr 3q27.1q29(184,428,168-197,840,339)x3, 15q26.1q26.3( 90,857,664-102,383,473)x1 | 13: 11.5 | paternal translocation | Amniocytes |
| 6 | DGT283330 | M | arr 2p12p11.2(82,510,808-84,804,525)x1, 14q11.2q12(20,472,548-31,139,579)x3, 15q11.1q14(20,102,541-35,758,169)x1 | 2.2: 10.7: 15.6 | maternal translocation | Periph. Blood |
| 7 | DGT290945 | F | arr 7p22.3p22.2 (92.532-4.176.031)x3, 7p22.3p22.2 (7.044.310-15.709.683)x3, 11q24.1q25(122.467.330-134.868.407)x1 | 4: 8.6: 12.4 | de novo | Chorionic villi |