Standard Fish Probes Catalog (Continued)

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 



IVS 3 

IVS 12-Exon 15

~100 kb upstream

ish inv(16)(p13q22)(PLA2G10 mv, PKD mv, PM5 sp)
ST-0000037 NT_000691 PLA2G103 



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; 



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-)

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

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
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

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