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ChromosOmics - Database
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CHROMOSOME 12 -
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Heterochromatic
- (peri)centromeric variants
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case no.
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(molecular) cytogenetic result
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clinical symptoms
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reference
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12-
p11.1+/
1-1 to many
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der(12)(p11.1amp)
best visible in C-or Q-banding or inverted
DAPI-banding
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none
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{1, pages 69-70}
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12-
q11+/
1-1 to many
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der(12)(q11amp)
best visible in C- or Q-banding or inverted
DAPI-banding
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none
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{1, pages 69-70}
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12-
cen+/
1-1 to many
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12cen+
D12Z3
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none
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{1, pages 69-70}
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12-
cen+/inv/
1-1
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cen12+,?inv(12)(p11.1q11)(D12Z3++)
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none
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{0 - 76215}
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12-
cen-/
1-1 to few
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12cen-
D12Z3
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none
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{1, pages 69-70}
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Heterochromatic - other
heterochromatic variants |
case no.
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(molecular)
cytogenetic result
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clinical
symptoms
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reference
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12-
HHM-
acro/
1-1 to 1-5
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der(12)t(12;acro)(p13.33;p11.2)
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none
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{1; 27}
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12-
HHM-
acro/
2-1
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ins(12;acro)(p11.1;acro)
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none
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{1; 36}
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12-
HHM
Xp11.1q11.1/
1-1
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ins(1;X)(q10;p11.1q11.1),
ins(12;X)(q10;p11.1q11.1),
ins(17;X)(q10;p11.1q11.1)
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none
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{1, page 81; 60}
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Euchromatic deletions |
case no.
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(molecular)
cytogenetic result
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clinical
symptoms
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reference
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12-
EHM-del
pterp13.33/
1-1
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del(12)(p13.33)
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mild
to moderate
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{1}
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12-
EHM-del
pterp13.31/
1-1
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del(12)(p13.31)
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mild
to moderate
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{1}
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12-
EHM-del
q21.1q21.2/
1-1
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del(12)(q21.1q21.2)
position hg19/GRCh37: 72.309057-78.279854
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none
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{0} 68344
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Euchromatic
duplications |
case no.
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(molecular)
cytogenetic result
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clinical
symptoms
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reference
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12-
EHM-dup
p13.32p13.31/
1-1
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dup(12)(p13.32p13.31)
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none
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{1}
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12-
EHM-dup
p12.3p11.2/
1-1
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dup(12)(p12.3p11.2)
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mild
to moderate
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{1}
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12-
EHM-dup
p12.3p11.2/
1-1
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dup(12)(p12.2p12.2)
~19-22 Mb
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none
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{0 - 32914}
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12-
EHM-dup
p13.33/
1-1 to multiple
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496a11
(PAC) can produce add. signals on 6pter and
20qter-
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none
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{5}
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12-
EHM-dup
p12.1q12/
1-1 to few
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sSMC(12)
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none
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{sSMC
page}
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12-
EHM-dup
q11.1q12/
1-1
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amp(12)(q11.1q12)
(wcp12+,pcp12p+,RP11-517B23+,pcp12q+,RP11-498B21++,
RP11-912B6++,RP11-474N8+,RP11-410B16+)
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none
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{0 - 73080}
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12-
EHM-dup
q21.31q21.32/
1-1
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dup(12)(q21.31q21.32)
position hg19/GRCh37:
81,983,257-87,322,734
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none
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{131}
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12-
EHM-dup
q21.32q22/
1-1
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dup(12)(q21.32q22)
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none
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{1}
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12-
EHM-dup
q24.33q24.33/
1-1
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dup(12)(q24.33q24.33)
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mild
to moderate
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{1}
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