Table 2.
Case ID (DECIPHER code) | Platform | Chr | Starting probe | Ending probe | Start position | End position | Confirmation | Status of inheritance |
---|---|---|---|---|---|---|---|---|
1 (LEI249115) | Affymetrix 6.0 | X | SNP_A-8289707 | CN_919279 | 152944369 | 153229444 | FISH | de novo |
3, dup | SNP_A-8679270 | CN_1009211 | 161179692 | 161387072 | FISH | de novo | ||
2 (WSX002126) | Agilent 44K | X | A_14_P139931 | A_14_P111123 | 152850692 | 154494649 | FISH | de novo |
21, del | A_14_P106169 | A_14_P100394 | 45354820 | 46892352 | FISH | de novo | ||
3(SIE004469) | Agilent 44K | X | A_14_P104261 | A_14_111123 | 152417785 | 154494590 | FISH | de novo |
4 | X-chromosome tiling-path array | X | RP11-54I20 | CTD-2238E23 | 152359267 | 153108683 | MLPA | X-linked |
5 | Affymetrix 6.0 | X | unknown | unknown | 152914248 | 153021750 | FISH | de novo |
2, dup | unknown | unknown | 148878326 | 149702817 | paternal |
Mapping positions are according to the hg18 assembly of the UCSC genome browser. Del, deletion; dup, duplication.