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ChromosOmics - Database
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CHROMOSOME 19 -
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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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19-
p12p11+/
1-1 to many
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der(19)(p12p11amp)
= 19ph+
best visible in C-, Q-banding or inverted
DAPI-banding (4% of cases)
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none
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{1, page 76}
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19-
p12q12+/
1-1 to many
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der(19)(p12q12amp)
= 19qh+
best visible in C-, Q-banding or inverted
DAPI-banding (9% of cases)
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none
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{1, page 76}
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19-
q11q12+/
1-1 to many
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der(19)(q11q12amp)
best visible in C-, Q-banding or inverted
DAPI-banding (11% of cases)
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none
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{1, page 76}
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19-
cen+/
1-1
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19cen+
D19Z3 (stains 19p11.1 only!) = D1Z7 = D5Z2
here cases with D19Z3 enlargements have been
seen which look in inverted DAPI like 19ph+
and 19qh+
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none
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{0; 1, page 76,
Color Plate 4, VII}
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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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19-
HHM-
own cep/
1-1 to many
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D19Z3
(stains 19p11.1 only!)
gives always signals on 1p11.1q11 (=D1Z7)
and 5p11 (D5Z2)
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none
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{1}
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19-
HHM-
Xp11.1q11.1/
1-1
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ins(19;X)(q10;p11.1q11.1)
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none
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{1, page 81; 59}
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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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19-
EHM-del
pterp13/
1-1
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del(19)(p13)
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none
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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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19-
EHM-dup
p13.11q13.11/
1-1 to few
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sSMC(19)
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none
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{sSMC
page}
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