Neurofibromatosis type 1-associated tumours ... - Human Genomics
Neurofibromatosis type 1-associated tumours ... - Human Genomics
Neurofibromatosis type 1-associated tumours ... - Human Genomics
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668 # HENRY STEWART PUBLICATIONS 1479–7364. HUMAN GENOMICS. VOL 5. NO 6. 623–690 OCTOBER 2011<br />
Table S1. Continued<br />
Patient Germline mutation<br />
ID<br />
Type of<br />
germline<br />
mutation<br />
LOH LOH markers Predicted<br />
extent of<br />
LOH<br />
D561 NI NI Yes D17S1294, D17S1863,<br />
D17S1849, D17S1166,<br />
D17S1800, D17S1880,<br />
D17S1818, D17S855,<br />
D17S1827, D17S787,<br />
D17S948, D17S785,<br />
D17S784<br />
D378 NI NI Yes D17S1294, D17S1863,<br />
D17S1849, D17S1166,<br />
D17S1800, D17S1880,<br />
D17S1818, D17S855,<br />
D17S785<br />
D341 NI NI Yes D17S1849, D17S1166,<br />
D17S1800, D17S1880<br />
D566 NI NI Yes D17S1849, D17S1166,<br />
D17S1800, D17S784<br />
PCs<br />
1 NI NI Yes DI7S34, DI7S137,<br />
CRYBI, NF1, DI7S4<br />
2 NI NI Yes CRYBI, DI7S33, NF1,<br />
DI7S55, DI7S4<br />
3 NI NI Yes DI7S5, DI7S134,<br />
DI7S58, DI7S33<br />
Majority of<br />
17q<br />
Majority of<br />
17q<br />
NF1 and<br />
flanking<br />
regions<br />
NF1 and<br />
flanking<br />
regions<br />
Whole<br />
chromosome<br />
NF1<br />
Whole<br />
chromosome<br />
4 NI NI Yes DI7S33, NF1 Intragenic<br />
NF1<br />
5 NI NI Yes DI7S71, NF1, DI7S226 Whole<br />
chromosome<br />
Evidence<br />
for genomic<br />
deletion?<br />
MLPA/CGH<br />
arrayCGH/<br />
FISH<br />
MLPA<br />
Array CGH<br />
Array CGH<br />
Array CGH<br />
Probable<br />
mechanism<br />
Mitotic<br />
recombination–<br />
UPD<br />
Mitotic<br />
recombination–<br />
UPD<br />
Genomic<br />
deletion<br />
Genomic<br />
deletion<br />
No.<br />
samples<br />
with<br />
LOH<br />
NIA 7/7 22<br />
Reference<br />
Continued<br />
REVIEW Laycock-van Spyk et al.
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