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ChromosOmics - Database
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CHROMOSOME 20 -
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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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20-
cen+/
1-1 to few
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20cen+,
also 20ph+
D20Z2 in 20p11.1
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none
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{1, page 77}
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20-
cen+/
1-1 to 1-2
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20cen+,
also 20qh+
for D20Z1 in 20q11.1
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none
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{82} 67563
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20-
cen-/
1-1 to 1-2
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20cen-
for D20Z1 in 20q11.1
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none
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{0-57077, 67563}
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20-
inv20p11.1/
1-1
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inv(20)(p11.1q11.1)
with
20qh+ (for D20Z1 in 20q11.1)
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none
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{0-53956}
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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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20-
HHM-
owncep/
1-1 to many
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D20Z2
(stains 20p11.1)
gives always signals on 2p11.2q11.1
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none
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{1}
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20-
HHM-
acro/
1-1 to 1-5
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der(20)t(20;acro)(p13;p11.2)
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none
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{1; 31; 0-52838;
98 (3 cases)}
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20-
HHM-
acro/
2-1 to 2-2
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der(20)t(20;acro)(q13.33;p11.2)
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none
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{1; 32; 98 (case
20qs}
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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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20-
EHM-del
pterp13/
1-1 to 1-2
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del(20)(p13)
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none
mild to moderate
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{1; 77}
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20-
EHM-del
p12.2p11.2/
1-1
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del(20)(p12.2p11.2)
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mild
to moderate
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{1}
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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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20-
EHM-dup
p12.2p12.1/
1-1
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dup(20)(p12.2p12.1)
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none
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{1}
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20-
EHM-dup
p11.22q11.21/
1-1 to few
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sSMC(20)
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none
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{sSMC
page}
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20-
EHM-dup
q13.33qter/
1-1 to 1-3
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der(22)(22pter→22q13.33:
:20q13.33→20q13.33:
:6p25.3→6pter)
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none
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{72; 73}
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