Author Archives: Peter Rogan

ST-0000064

22/ DiGeorge Sx E3

Gene:

HIRA

Interval:

IVS 21-IVS 24

Cytogenetic nomenclature: ish del(22)(q11.2)(HIRA-)

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ST-0000063

22/ DiGeorge Sx E3

Gene:

HIRA

Interval:

~60 kb downstream

Cytogenetic nomenclature: ish del(22)(q11.2)(HIRA-)

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ST-0000062

21/ ALL E3

Gene:

AML1/RUNX

Interval:

Promoter-exon 1

Cytogenetic nomenclature: ish t(12;21)(p13;q22)(AML1 st)

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ST-0000061

21/Down Sx E3

Gene:

DSCR4

Interval:

~20 kb upstream

Cytogenetic nomenclature: ish (21)(q22.2q22.3)(DSCR4x3)

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ST-0000060

21/Down Sx E3

Gene:

DSCR4

Interval:

~30 kb upstream

Cytogenetic nomenclature: ish (21)(q22.2q22.3)(DSCR4x3)

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ST-0000059

21/Down Sx E3

Gene:

DSCR4

Interval:

~39 kb upstream

Cytogenetic nomenclature: ish (21)(q22.2q22.3)(DSCR4x3)

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ST-0000058

Alagille Sx E3

Gene:

JAG1

Interval:

IVS 5-IVS 8

Cytogenetic nomenclature: ish del(20)(p12.3p12.3)(JAG1-)

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ST-0000057

Alagille Sx E3

Gene:

JAG1

Interval:

IVS 2-IVS 3

Cytogenetic nomenclature: ish del(20)(p12.3p12.3)(JAG1-)

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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-)

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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-)

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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-)

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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-)

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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++)

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ST-0000051

17/ Miller-Dieker Sx

Gene:

PAFAH1B1

Interval:

~5kb downstream

Cytogenetic nomenclature: ish del(17)(p13.3)(PAFAH1B1/EIF-3-)

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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++)

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ST-0000049

17/Charcot-Marie-Tooth 1A E3

Gene:

PMP22

Interval:

IVS 3

Cytogenetic nomenclature: ish dup(17)(p11.2p11.2)( PMP22++)

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ST-0000048

17/Charcot-Marie-Tooth 1A E3

Gene:

PMP22

Interval:

Promoter(~5 kb upstream)

Cytogenetic nomenclature: ish dup(17)(p11.2p11.2)( PMP22++)

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