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ChromosOmics - Database
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CHROMOSOME 6 -
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Heterochromatic
- (peri)centromeric variants
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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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06-
HHM-
acro/
1-1
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ins(6;acro)(q15;acro)
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none
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{1; 33}
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06-
HHM-
acro/
2-1
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der(6)t(6;acro)(q27;p11.2)
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none
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{0-50537}
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06-
HHM-
acro14p/
1-1
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ins(6;14)(p22;p12p12)
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none
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{38}
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06-
HHM-
tel/
1-1
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add(6)(q27).ish
der(6)(amp tel)
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none
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{0-72078}
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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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06-
EHM-del
6pterp25/
1-1
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del(6)(p25)
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none
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{1}
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06-
EHM-del
q22.31q23.1/
1-1
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del(6)(q22.31q23.1)
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none
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{1}
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06-
EHM-del
q27qter/
1-1
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del(6)(q27)
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none in
mother of affected child
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{68}
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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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06-
EHM-dup
pterq25.3/
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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06-
EHM-dup
p23p16.2/
1-1
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dup(6)(p16.2p23)
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mild
to moderate
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{1}
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06-
EHM-dup
p12q12.1/
1-1 to few
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sSMC(6)
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none
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{sSMC
page}
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06-
EHM-dup
q16.1q21/
1-1
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dup(6)(q16.1q21)
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none
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{1}
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06-
EHM-dup
q21q22.1/
1-1
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dup(6)(q21q22.1)
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mild
to moderate |
{1; 123}
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06-
EHM-dup
q23.3q24.2/
1-1
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dup(6)(q23.3q24.2)
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none
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{1}
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06-
EHM-dup
q24.2q24.2/
1-1
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dup(6)(q24.2q24.2)
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none
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{1}
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