Table 4

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 namePosition (bp)*NCBIUCSCGene†Product sizeAmplified 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.
SHGC-104436232636k PAX3 (intron) 298N2, 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)
D2S2354237237k - 255-275N2, der(8)
WI-9260 (D2S2647)237454k IRS-1 105-106N2, der(8)
stSG4622989631k104070k - 141N8, der(8)
WI-1642389678k104030k - 129N8, der(8)
SGC3586089771kNot in UCSC database‡LOC51633109N8, der(8)
WI-422990674k101612k‡ - 274N8, der(8)
SHGC-1060990018k101402k‡ - 152N8, 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)
D8S147690924k104316k/104628k¶SLC26A7125N8, der(2)
SHGC-8401291187k104735k - 272N8, der(2)
D8S1618 (WI-3120)91227k104700k - 249N8, der(2)
SHGC-10520391360k104960k - 320N8, der(2)