22/ DiGeorge Sx E3
Gene:
HIRA
Interval:
IVS 21-IVS 24
Cytogenetic nomenclature: ish del(22)(q11.2)(HIRA-)
[dpsc_display_product]
ST-0000063
22/ DiGeorge Sx E3
Gene:
HIRA
Interval:
~60 kb downstream
Cytogenetic nomenclature: ish del(22)(q11.2)(HIRA-)
[dpsc_display_product]
ST-0000062
21/ ALL E3
Gene:
AML1/RUNX
Interval:
Promoter-exon 1
Cytogenetic nomenclature: ish t(12;21)(p13;q22)(AML1 st)
[dpsc_display_product]
ST-0000061
21/Down Sx E3
Gene:
DSCR4
Interval:
~20 kb upstream
Cytogenetic nomenclature: ish (21)(q22.2q22.3)(DSCR4x3)
[dpsc_display_product]
ST-0000060
21/Down Sx E3
Gene:
DSCR4
Interval:
~30 kb upstream
Cytogenetic nomenclature: ish (21)(q22.2q22.3)(DSCR4x3)
[dpsc_display_product]
ST-0000059
21/Down Sx E3
Gene:
DSCR4
Interval:
~39 kb upstream
Cytogenetic nomenclature: ish (21)(q22.2q22.3)(DSCR4x3)
[dpsc_display_product]
ST-0000058
Alagille Sx E3
Gene:
JAG1
Interval:
IVS 5-IVS 8
Cytogenetic nomenclature: ish del(20)(p12.3p12.3)(JAG1-)
[dpsc_display_product]
ST-0000057
Alagille Sx E3
Gene:
JAG1
Interval:
IVS 2-IVS 3
Cytogenetic nomenclature: ish del(20)(p12.3p12.3)(JAG1-)
[dpsc_display_product]
ST-0000056
17/ Miller- Dieker Sx E3
Gene:
PAFAH1B1 EIF-35
Interval:
~13 kb downstream IVS 5-IVS 11
Cytogenetic nomenclature: ish del(17)(p13.3)(PAFAH1B1/EIF-3-)
[dpsc_display_product]
ST-0000055
17/ Miller- Dieker Sx E3
Gene:
PAFAH1B1 EIF-35
Interval:
~13 kb downstream IVS 5-IVS 11
Cytogenetic nomenclature: ish del(17)(p13.3)(PAFAH1B1/EIF-3-)
[dpsc_display_product]
ST-0000054
17/ Miller- Dieker Sx E3
Gene:
PAFAH1B1 EIF-35
Interval:
~7-8 kb downstream IVS 15-IVS 19
Cytogenetic nomenclature: ish del(17)(p13.3)(PAFAH1B1/EIF-3-)
[dpsc_display_product]
ST-0000053
17/ Miller- Dieker Sx E3
Gene:
PAFAH1B1 EIF-35
Interval:
~7-8 kb downstream IVS 15-IVS 19
Cytogenetic nomenclature: ish del(17)(p13.3)(PAFAH1B1/EIF-3-)
[dpsc_display_product]
ST-0000052
17/ Miller- Dieker Sx E3
Gene:
PAFAH1B1 EIF-35
Interval:
~5kb downstream IVS 24
ST-0000050
17/Charcot-Marie-Tooth 1A E3
Gene:
PMP224
Interval:
IVS 3
Cytogenetic nomenclature: ish dup(17)(p11.2p11.2)( PMP22++)
[dpsc_display_product]
ST-0000051
17/ Miller-Dieker Sx
Gene:
PAFAH1B1
Interval:
~5kb downstream
Cytogenetic nomenclature: ish del(17)(p13.3)(PAFAH1B1/EIF-3-)
[dpsc_display_product]
ST-0000052
17/ Miller- Dieker Sx E3
Gene:
PAFAH1B1 EIF-35
Interval:
~5kb downstream IVS 24
ST-0000050
17/Charcot-Marie-Tooth 1A E3
Gene:
PMP224
Interval:
IVS 3
Cytogenetic nomenclature: ish dup(17)(p11.2p11.2)( PMP22++)
[dpsc_display_product]
ST-0000049
17/Charcot-Marie-Tooth 1A E3
Gene:
PMP22
Interval:
IVS 3
Cytogenetic nomenclature: ish dup(17)(p11.2p11.2)( PMP22++)
[dpsc_display_product]
ST-0000048
17/Charcot-Marie-Tooth 1A E3
Gene:
PMP22
Interval:
Promoter(~5 kb upstream)
Cytogenetic nomenclature: ish dup(17)(p11.2p11.2)( PMP22++)
[dpsc_display_product]