| Chromosome /Disorder | Catalog Number | GenBank Accession | Gene | Interval | Cytogenetic nomenclature |
| 16/AML-M4 | ST-0000034 | NT_000691 | PM53 | ~20 kb downstream | ish inv(16)(p13q22)(PM5 sp) |
| (Acute Myelogenous leukemia – M4) | ST-0000035 | NT_000691 | PM53 | ~60 kb downstream | |
| ST-0000036 | NT_000691 | PLA2G103
PKD PM5 |
IVS 3
IVS 12-Exon 15 ~100 kb upstream |
ish inv(16)(p13q22)(PLA2G10 mv, PKD mv, PM5 sp) | |
| ST-0000037 | NT_000691 | PLA2G103
PKD PM5 |
IVS 3
Exon 15-IVS 20 ~100 kb upstream & ~300 kb downstream |
||
| ST-0000038 | NT_025903 | ABCC1/MDR1 | IVS 6 | ish inv (16)(p13q22)(ABCC1st) | |
| 16/Ruben- stein-Taybi Sx | ST-0000039 | NT_000671 | CREBBP | IVS 19 – IVS 20 | ish del(16)(p13.3)(CREBBP-) |
| ST-0000040 | NT_000671 | CREBBP | IVS 19 | ||
| 17/Smith- Magenis Sx | ST-0000041 | NT_000770 | ADORA2B4 | Promoter-IVS 1 | ish del (17)(p11.2p11.2)(ADORA2B-) |
| ST-0000042 | NT_000770 | ADORA2B4 | IVS 1 | ||
| ST-0000043 | U80184 | FLI1 | IVS 12-IVS 14 | ish del (17)(p11.2p11.2)(FLI1-) | |
| ST-0000044 | U80184 | FLI1 | IVS 15-Exon 21 | ||
| ST-0000045 | NT_000760 | MFAP4 | IVS 2 – 3 UTR | ish del(17)(p11.2p11.2)(MFAP4-) | |
| ST-0000046 | AL035367 | ZNF179-PAIP1;
LLGL/HUGL; SHMT1 |
Between ZNF179 PAIP1; IVS7-Exon 13; IVS 4 | ishdel (17)(p11.2p11.2) (ZNF179/PAIP1/SHMT1-) | |
| ST-0000047 | AL035367 | LLGL/HUGL | Promoter –Exon 1
Promoter – IVS1 |
ish del(17)(p11.2p11.2)(LGLL/HUGL-) | |
| 17/Charcot-
Marie–Tooth 1A |
ST-0000048 | AC005703 | PMP22 | Promoter
(~5 kb upstream) |
ish dup(17)(p11.2p11.2)( PMP22++) |
| ST-0000049 | AC005703 | PMP22 | IVS 3 | ||
| ST-0000050 | AC005703 | PMP224 | IVS 3 | ||
| 17/ Miller-Dieker Sx | ST-0000051 | NT_000774 | PAFAH1B1 | ~5kb downstream | ish del(17)(p13.3)(PAFAH1B1/EIF-3-)
|
| EIF-35 | IVS 24–IVS 27 | ||||
| ST-0000052 | NT_000774 | PAFAH1B1 | ~7-8 kb downstream | ||
| EIF-35
|
IVS 15-IVS 19 | ||||
| ST-0000053 | NT_000774 | PAFAH1B1 | ~13 kb downstream | ||
| ST-0000054 | EIF-35
|
IVS 5-IVS 11 | |||
| Alagille Sx | ST-0000055 | AL035456.24 | JAG1 | IVS 2-IVS 3 | ish del(20)(p12.3p12.3)(JAG1-) |
| ST-0000056 | AL035456.24 | JAG1 | IVS 5-IVS 8 | ||
| 21/Down Sx | ST-0000057 | AP000160 | DSCR4 | ~39 kb upstream | ish (21)(q22.2q22.3)(DSCR4x3) |
| ST-0000058 | AP000160 | DSCR4 | ~30 kb upstream | ||
| ST-0000059 | AP000160 | DSCR4 | ~20 kb upstream | ||
| 21/ ALL | ST-0000060 | AP000057 | AML1/RUNX | Promoter-exon 1 | ish t(12;21)(p13;q22)(AML1 st) |
| 22/ DiGeorge Sx | ST-0000061 | NT_001039 | HIRA | IVS 21-IVS 24 | ish del(22)(q11.2)(HIRA-) |
| ST-0000062 | NT_001039 | HIRA | IVS 13-IVS 15 | ||
| ST-0000063 | NT_001039 | HIRA | IVS 12-IVS 13 | ||
| ST-0000064 | NT_001039 | HIRA | IVS 2-IVS 4 | ||
| ST-0000065 | |||||
| 22/CML; ALL | ST-0000066 | U07000 | BCR | Proximal to major
breakpoint in CML |
ish t(9;22)(q34;q11.2)(BCR st) |
| ST-0000067 | U07000 | BCR | Proximal to major breakpoint in CML | ||
| ST-0000069 | U07000 | BCR | IVS 8 | ish t(9;22)(q34;q11.2)(BCR mv) | |
| X/ Kallman Sx | ST-0000070 | NT_ 001457 | GS2 | Promoter- IVS 2 | ish del(X)(p22.31)(GS2-) |
| ST-0000071 | AC006062 | KAL1 | IVS 6-IVS 7 | ish del(X)(p22.31)(KAL1-) | |
| ST-0000072 | AC006062 | KAL1 | ~8 kb downstream | ||
| X/ Turner; Leri- Weill Sx | ST-0000073 | NT_001151 | SHOX | IVS 2- exon 3 | ish del(X)(p22.33)(SHOX-) |
| ST-0000074 | NT_001151 | SHOX | IVS 4 | ||
| ST-0000075 | NT_001151 | SHOX | IVS 6 | ||
| ST-0000076 | NT_001159 | TBL1 | IVS 3 | ish del(X)(p22.22-22.31)(TBL1-) | |
| ST-0000077 | NT_001159 | TBL1 | Exon 15- 3 |
|
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** WWW hyperlinks are to localized probe sequence in ContigView browser (v9.30a.1; 2 December 2002) at http://www.ensembl.org/Homo_sapiens/
