ST-0000046

17/Smith-Magenis Sx E3

Gene:

ZNF179-PAIP1;LLGL/HUGL;SHMT1

Interval:

Between ZNF179 PAIP1; IVS7-Exon 13; IVS 4 Cytogenetic nomenclature: ishdel (17)(p11.2p11.2) (ZNF179/PAIP1/SHMT1-)

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ST-0000045

17/Smith-Magenis Sx E3

Gene:

MFAP4

Interval:

IVS 2 – 3’UTR

Cytogenetic nomenclature: ish del(17)(p11.2p11.2)(MFAP4-)

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ST-0000044

17/Smith-Magenis Sx E3

Gene:

FLI1

Interval:

IVS 15-Exon 21

Cytogenetic nomenclature: ish del (17)(p11.2p11.2)(FLI1-)

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ST-0000043

17/Smith-Magenis Sx E3

Gene:

FLI1

Interval:

IVS 12-IVS 14

Cytogenetic nomenclature: ish del (17)(p11.2p11.2)(FLI1-)

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ST-0000042

17/Smith-Magenis Sx E3

Gene:

ADORA2B4

Interval:

IVS 1

Cytogenetic nomenclature: ish del (17)(p11.2p11.2)(ADORA2B-)

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ST-0000041

17/Smith-Magenis Sx E3

Gene:

ADORA2B4

Interval:

Promoter-IVS 1

Cytogenetic nomenclature: ish del (17)(p11.2p11.2)(ADORA2B-)

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ST-0000040

16/Ruben-stein-Taybi Sx E3

Gene:

CREBBP

Interval:

IVS 19

Cytogenetic nomenclature: ish del(16)(p13.3)(CREBBP-)

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ST-0000039

16/Ruben-stein-Taybi Sx E3

Gene:

CREBBP

Interval:

IVS 19

ST-0000038

16/AML-M4(Acute Myelogenous leukemia – M4) E3

Gene:

ABCC1/MDR1

Interval:

IVS 6

Cytogenetic nomenclature: ish inv (16)(p13q22)(ABCC1st)

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ST-0000037

16/AML-M4(Acute Myelogenous leukemia – M4) E3

Gene:

PLA2G103/PKD/PM5

Interval:

IVS 3Exon 15-IVS 20~100 kb upstream & ~300 kb downstream

Cytogenetic nomenclature: ish inv(16)(p13q22)(PLA2G10 mv, PKD mv, PM5 sp)

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ST-0000036

16/AML-M4(Acute Myelogenous leukemia – M4) E3

Gene:

PLA2G103/PKD/PM5

Interval:

IVS 3 IVS 12-Exon 15 ~100 kb upstream

Cytogenetic nomenclature: ish inv(16)(p13q22)(PLA2G10 mv, PKD mv, PM5 sp)

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ST-0000035

16/AML-M4(Acute Myelogenous leukemia – M4) E3

Gene:

PM53

Interval:

~60 kb downstream

Cytogenetic nomenclature: ish inv(16)(p13q22)(PM5 sp)

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ST-0000034

16/AML-M4(Acute Myelogenous leukemia – M4) E3

Gene:

PM53

Interval:

~20 kb downstream

Cytogenetic nomenclature: ish inv(16)(p13q22)(PM5 sp)

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ST-0000033

15/Prader-Willi, Angelman & Duplication Sx E3

Gene:

MAGEL2

Interval:

~22 kb downstream

Cytogenetic nomenclature: sh dup (15)(q11.2q11.2)(MAGEL2++)

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ST-0000032

15/Prader-Willi, Angelman & Duplication Sx E3

Gene:

MAGEL2

Interval:

~4 kb downstream

Cytogenetic nomenclature: ish dup (15)(q11.2q11.2)(MAGEL2++)

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ST-0000031

15/Prader-Willi, Angelman & Duplication Sx E3

Gene:

MAGEL2

Interval:

CDS- 3′ UTR-2 kb downstream

Cytogenetic nomenclature: ish del(15)(q11.1q11.2)(MAGEL2-)

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ST-0000030

15/Prader-Willi, Angelman & Duplication Sx E3

Gene:

IC/SNRPN

Interval:

IVS 5′-Exon u1B

Cytogenetic nomenclature: IC/SNRPN++), and ish dic(15q11.2q13) (UBE3A++,IC/SNRPN++)

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ST-0000029

15/Prader-Willi, Angelman & Duplication Sx E3

Gene:

IC/SNRPN

Interval:

IVS 5′-Exon u1B2-IVS 3′

Cytogenetic nomenclature: IC/SNRPN++), and ish dic(15q11.2q13) (UBE3A++,IC/SNRPN++)

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ST-0000028

15/Prader-Willi, Angelman & Duplication Sx E3

Gene:

SNRPN

Interval: Promoter

ST-0000027

15/Prader-Willi, Angelman & Duplication Sx E3

Gene:

IC/SNRPN

Interval:

IVS 3′ to Exon u1B2

Cytogenetic nomenclature: ish del(15)(q11.2q11.2)(IC/ SNRPN-)

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