Presence of STS on chromosomes of the proband as determined by PCR of isolated chromosomes. Markers bordering breakpoints or deleted in rearrangement are in bold type
| Position (bp) | ||||||
|---|---|---|---|---|---|---|
| Marker name | Position (bp)* | NCBI | UCSC | Gene† | Product size | Amplified chromosom es§ |
| *Positions on UCSC Genome Browser build 06.08.2001. | ||||||
| †Genes assignments are from UCSC Genome Browser build 06.08.2001 except where noted. | ||||||
| ‡Markers ordered or genes assigned according to NCBI contigs. | ||||||
| §N2 is proband's normal 2; N8 is proband's normal 8; der(2) is proband's derivative (2); der(8) is proband's derivative (8). | ||||||
| ¶Appears twice in UCSC database. | ||||||
| **Phenylalanyl-tRNA synthetase beta subunit: HUGO provisional designation, Dec 2001. Locus link designation PheHB. | ||||||
| 2q35 | ||||||
| SHGC-104436 | 232636k | PAX3 (intron) | 298 | N2, der(2) | ||
| WI-7962 (D2S2599) | 232668k | PAX3 (cds) | 330 | N2, der(2) | ||
| GDB: 603639 | 232673k | PAX3 (5`UT) | 278 | N2, del | ||
| CP3PR | 232674k | PAX3 (promoter) | 148 | N2, del | ||
| SHGC-102627 | 232694k | - | 343 | N2, del | ||
| D2S313 | 232784k | - | 149 | N2, del | ||
| RH110169 | 232873k ‡ | - | 303 | N2, del | ||
| stSG27208 | 233036k | FARSLB1** | 131 | N2, del | ||
| SHGC-85602 | 236902k | - | 308 | N2, del | ||
| SHGC-148539 | 237059k | - | 332 | N2, der(8) | ||
| D2S2354 | 237237k | - | 255-275 | N2, der(8) | ||
| WI-9260 (D2S2647) | 237454k | IRS-1 | 105-106 | N2, der(8) | ||
| 8q21.3 | ||||||
| stSG46229 | 89631k | 104070k | - | 141 | N8, der(8) | |
| WI-16423 | 89678k | 104030k | - | 129 | N8, der(8) | |
| SGC35860 | 89771k | Not in UCSC database‡ | LOC51633‡ | 109 | N8, der(8) | |
| WI-4229 | 90674k | 101612k‡ | - | 274 | N8, der(8) | |
| SHGC-10609 | 90018k | 101402k‡ | - | 152 | N8, der(8) | |
| SHGC-155293 | 90151k | 101255k‡ | - | 283 | N8, der(8) | |
| SHGC-101603 | 90264k | 101160k‡ | MMP16 | 325 | N8, del | |
| SHGC-85429 | 90377k | 100045k‡ | MMP16 | 327 | N8, del | |
| RH110076 | 90808k | Not in UCSC database‡ | - | 331 | N8, der(2) | |
| D8S1476 | 90924k | 104316k/104628k¶ | SLC26A7‡ | 125 | N8, der(2) | |
| SHGC-84012 | 91187k | 104735k | - | 272 | N8, der(2) | |
| D8S1618 (WI-3120) | 91227k | 104700k | - | 249 | N8, der(2) | |
| SHGC-105203 | 91360k | 104960k | - | 320 | N8, der(2) | |