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ChromosOmics - Database
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ACRO-CHROMOSOMES -
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NOTE:
in acrop12 is human 45S rRNA (with subunits 18S, 5.8S, and 28S
rRNAs) cluster located {117}
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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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acro-
ph+/
1-1 to 1-962
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acro ph+
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none
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{1, page 9}
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acro-
p13+/
1-1 to 1-30
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acro p13+
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none
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{0; 1}
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acro-
p12+/
1-1 to many
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der(acro)(p13p11.2x2)
NOR 2x
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none
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{1}
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acro-
p12+/
2-1 to several
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der(acro)(p13p11.2x3)
NOR 3x
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none
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{1}
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acro-
p12+/
3-1 to few
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der(acro)(p13p11.2x4)
NOR 4x
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none
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{1}
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acro-
p12+/
4-1 to serveral
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der(acro)(p12amp)
NOR amplifed - one large painting like signal
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none
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{0;1}
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acro-
ph-/
1-1 to 1-34
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acro ph-
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none
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{1, page 9}
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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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acro-
HHM-ownp-arm/
1-1 to few
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material was inserted in
4; 6;
7; 8; 11; 16; 22; Y
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none
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{1}
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acro-
HHM-ownp-arm/
2-1 to few
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Material was translocated to
1; 2; 3;
4; 6;
7; 10; 15; 17; 18; 20; 21; 22; X; Y
acc. to {104} acro-p material
only rarely identifyable by D15Z1 or D22Z4, as
break most often distal of p11.2
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none
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{1: 104}
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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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No
reports yet
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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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No
reports yet
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