ChromosOmics - Database
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                                                     - CHROMOSOME  8  -                                                   


Heterochromatic

- centromeric
- other heterochromatic variants
Euchromatic

- euchromatic deletions
- euchromatic duplications
References


Heterochromatic - (peri)centromeric variants

case no.
(molecular) cytogenetic result
clinical symptoms
reference
08-
cen+/

1-1
8cen+
D8Z2

none
{1, page 65}
08-
cen-/
1-1

8cen+
D8Z2

none
{1, page 65}


Heterochromatic - other heterochromatic variants

case no.
(molecular) cytogenetic result
clinical symptoms
reference
08-
HHM-
acro/

1-1
ins(8;acro)(p11.1;p11.2p11.2)
none
{34}
08-
HHM-
9q12/
1-1 to 1-2

ins(8;9)(q21.2~21.3;q12q12)
none
{0} provided by Dr. Kelbova, Dresden, Germany


Euchromatic deletions

case no.
(molecular) cytogenetic result
clinical symptoms
reference
08-
EHM-del
pterp23.3~.1/

1-1
del(8)(p23.3~23.1)
none
{1}
08-
EHM-del
p23.2p23.1/
1-1

del(8)(p23.2p23.1)
aCGH (hg19): 3.14~3.19-7.75~8.13 Mb

none
{80) fam 1
08-
EHM-del
pterp23.1/
1-1

del(8)(p23.1)
none
{1}
08-
EHM-del
q24.13q24.22/

1-1
del(8)(q24.13q24.22)
none
{1}


Euchromatic duplications
Heterchromatic 8p duplications may be mixed up with rearrangements like reported in {1} or elsewhere {79}.

case no.
(molecular) cytogenetic result
clinical symptoms
reference
08-
EHM-dup
pterp23.3/
1-1

dup(8)(p23.3p23.3)
none
{77}
08-
EHM-dup
p23.3p22/
1-1 to 1-10

dup(8)(p23.3p22)
RP11-122N11; RP11-24D9

none
{1}
08-
EHM-dup
p23.3p22/
1-1 to 1-12

dup(8)(p23.3p22)
mild to moderate
{1}
08-
EHM-dup
p23.1/
1-1

dup(8)(p23.1p23.1)
aCGH(hg19): 8.08~8.13 to 11.723~11.724 Mb

none
{80} case 2
08-
EHM-dup
p11.2q11.23/
1-1 to few

sSMC(8)
none
{sSMC
page}

08-
EHM-dup
q21.2q2.12/
1-1 to few

dup or amp(8)(q21.2q21.2)
none
{1}
08-
EHM-dup
8q24/
1-1 to multiple

2205a2 (cosmid) can produce add. signals on 1pter
none
{5}