scFISH probes used to detect cytogenetic abnormalities associated with genomic disorders
Chromosome /Disorder | Catalog Number | GenBank Accession | Gene | Interval** | Cytogenetic nomenclature |
1/Monosomy 1p36 Sx | ST-0000001 | AL031282 | CDC2L1 | IVS 11-3 UTR | ish del (1)(p36.3)(CDC2L1-) |
ST-0000002 | AL031282 | CDC2L1 | 3 UTR | ||
4/ Wolf-Hirschorn Sx | ST-0000003 | NT_000102 | HD | Exon 67 – 0.2 kb downstream | ish del (4)(p16.3)(HD-) |
5/Cri-du-Chat Sx | ST-0000004 | NT_000149 | CTNND2 | IVS 17 | ish del (5)(p15.2)(CTNND2-) |
ST-0000005 | NT_000149 | CTNND2 | IVS 14 | ||
ST-0000006 | NT_000149 | CTNND2 | IVS 13 | ||
ST-0000007 | NT_000147 | SEMA5A | IVS 3 | ish del (5)(p15.31)(SEMA5A-) | |
ST-0000008 | NT_000147 | SEMA5A | IVS 3 | ||
ST-0000009 | NT_000147 | SEMA5A | IVS 3 | ||
ST-0000010 | AF119117 | SLC6A3 | IVS 3 | ish del (5)(p15.33)(SLC6A3-) | |
7/Williams Sx | ST-0000011 | NT_000398 | L1MK1 | IVS 2 | ish del(7)(q11.23q11.23)(LIMK1-) |
ST-0000012 | NT_000398 | L1MK1 | IVS 13-3UTR | ||
8/Langer- | ST-0000013 | NT_002886 | TRPS1 | IVS 1 | ish del(8)(q23.3q24.1)(TRPS1-) |
Giedeon Sx | ST-0000014 | NT_002886 | TRPS1 | IVS 1 | |
9/CML | ST-0000015 | U07561 | ABL1 | Exon 1b-IVS 1b | ish t(9;22)(q34;q11.2)(ABL st) |
(Chronic myelogenous leukemia) | ST-0000016 | U07562 | ABL1 | IVS 1b | |
ST-0000017 | U07563 | ABL1 | IVS 3 | ish t(9;22)(q34;q11.2)(ABL mv) | |
ST-0000018 | U07563 | ABL1 | IVS 3 | ||
ST-0000019 | U07563 | ABL1 | IVS 4-IVS 6 | ish t(9;22)(q34;q11.2)(ABL mv) | |
ST-0000020 | U07563 | ABL1 | Exon 11-IVS 11 | ||
12/ALL (Acute lymphocytic leukemia) | ST-0000021 | NT_000601 | TEL/ETV6 | IVS2 | ish t(12;21)(p13;q22)(TEL sp) |
ST-0000022 | NT_000601 | TEL/ETV6 | IVS3 | ||
ST-0000023 | NT_000601 | TEL/ETV6 | IVS5-IVS6 | ||
13/ Aneuploidy | ST-0000024 | AL355338 | ZIC2 | ~5.8 kb downstream | ish del(13)(q32)(ZIC2-) or |
ST-0000025 | AL355338 | ZIC2 | ~2 kb upstream | ish del(13)(q32)(ZIC2x3) | |
15/Prader-Willi, Angelman & Duplication Sx | ST-0000026 | AC004600 | UBE3A | IVS 8-IVS 9 | ish del(15)(q11.2q11.2)(UBE3A-) |
ST-0000027 | AC004737 | IC/SNRPN | IVS 3 to Exon u1B2 | ish del(15)(q11.2q11.2)(IC/ SNRPN-) | |
ST-0000028 | U41384.1 | SNRPN | Promoter – IVS 1 | ish dup(15)(q11.2q13)(UBE3A++, | |
ST-0000029 | AC004737 | IC/SNRPN | IVS 5-Exon u1B2-IVS 3 | IC/SNRPN++), and ish dic(15q11.2q13) (UBE3A++,IC/SNRPN++) | |
ST-0000030 | AC004737 | IC/SNRPN | IVS 5-Exon u1B | ||
ST-0000031 | AC006596 | MAGEL2 | CDS- 3 UTR-2 kb downstream | ish del(15)(q11.1q11.2)(MAGEL2-) or | |
ST-0000032 | AC006596 | MAGEL2 | ~4 kb downstream | ish dup (15)(q11.2q11.2)(MAGEL2++) | |
ST-0000033 | AC006596 | MAGEL2 | ~22 kb downstream |
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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/