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ChromosOmics - Database
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CHROMOSOME 11 -
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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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11-
cen+/
1-1 to many
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11cen+
D11Z1
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none
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{1, page 69}
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11-
cen+/
1-1 to 1-2
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dup(11)(p11.1q11)
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none
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{1, page 69}
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11-
cen-/
1-1 to few
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11cen-
D11Z1
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none
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{1, page 69}
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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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11-
HHM-
acro/
1-1
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ins(11;acro)(q21;acro)
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none
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{1; 35}
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11-
HHM-
Yq12/
1-1
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ins(11;Y)(q24;q12q12)
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none
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{1, page 83; 62}
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11-
HHM-
Yq12/
2-1
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ins(11;Y)(q10;q12q12)
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none
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{1, page 83; 63}
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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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11-
EHM-del
pterp15.5/
1-1
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del(11)(p15.5)
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mild
to moderate
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{1}
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11-
EHM-del
p12p12/
1-1
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del(11)(p12p12)
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none
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{1}
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11-
EHM-del
q14.3q14.3/
1-1
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del(11)(q14.3q14.3)
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none
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{1}
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11-
EHM-del
q14.2q22.1/
1-1
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del(11)(q14.2q22.1)
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none
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{1}
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11-
EHM-del
q22.1q22.2/
1-1
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del(11)(q22.1q22.2)
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none
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{0 - 2007085}
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11-
EHM-del
q24.2qter/
1-1
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del(11)(q24.2)
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mild
to moderate
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{1}
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11-
EHM-del
q25qter/
1-1 to 1-3
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del(11)(q25)
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none
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{1; 77}
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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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11-
EHM-dup
p15.5/
1-1
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2209a2
(cosmid) can produce add. signals on 17pter
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none
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{5}
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11-
EHM-dup
p15.3p15.1/
1-1
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der(14)ins(14;11)(q32.1;p15.3p15.1)
aCGH (hg19): 12,188,255-19,258,056
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none
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{96}
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11-
EHM-dup
p15.1p14.3/
1-1
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dup(11)(p15.1p14.3)
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mild
to moderate
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{1}
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11-
EHM-dup
p11.12q12.1/
1-1 to few
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sSMC(11)
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none
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{sSMC
page}
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11-
EHM-dup
q24.2q25/
1-1
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dup(11)(q24.2q25)
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mild
to moderate
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{1}
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11-
EHM-dup
q25q25/
1-1
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dup(11)(q25q25)
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none
in father of affected child
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{68}
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