ChromosOmics - Database

                                                     - CHROMOSOME 8 -                                                    
- unclear if maternal or paternal UPD -

UPD MATERNAL
 CHR . 8

UPD PATERNAL
 CHR . 8
UPD-cases without clinical findings
+ normal karyotype
UPD-cases with or unclear clinical
correlation + normal karyotype

UPD-cases without clinical findings
+ balanced karyotype
UPD-cases with or unclear clinical
correlation
+ balanced karyotype
UPD-cases without clinical findings
+ sSMC
UPD-cases with or unclear clinical
correlation + sSMC
segmental UPD-cases without
clinical findings
segmental UPD-cases with or
unclear clinical correlation
UPD-cases without clinical findings
+ other imbalances
UPD-cases with or unclear clinical
correlation + other imbalances

References


mat or pat UPD-cases without clinical findings + normal karyotype

case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
08-
OU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
08-
OU-N/
mos/

1-1
- - - - - -


mat or pat UPD-cases without clinical findings + balanced karyotype

case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
08-
OU-bal/
1-1

- - - - - -


mat or pat UPD-cases without clinical findings + sSMC

case no.
case no. in sSMC database
gender/
age at diagnosis

studied
material

GTG-banding result
final FISH result of the sSMC
FISH
methods

clinical symptoms
reference
08-
OU-sSMC/
1-1

- - - - - - - -


segmental mat or pat UPD-cases without clinical findings

case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
08-
OU-seg/
p21.3/

1-1
male prenatal placental DNA NIPT suggested a recue of 46,XY,del(8)(p21.3)
none after birth {1375} case 2
08-
OU-seg/
p11.21/

1-1
n.a.
see also

20-OU-seg/
p11.23/
1-1
prenatal placental DNA NIPT suggested a recue of 46,XN,del(8)(p11.21),dup(20)(pter->p11.23) - also r(19)as mosaic
minimal after birth, most likely due to +19 mosaic {1375} case 3

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
08-
OU-seg/
/
mos/

1-1
- - - - - -


mat or pat UPD-cases without clinical findings + other imbalances

case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
08-
OU-imb/

1-1 to 1-2

n.a.
prenatal PBL
46,XN,+8
acc. to NIPT

normal child born
{1389} cases 136 and 138

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
08-
OU-imb/
mos/

1-1

- - - - - -


mat or pat UPD-cases with or unclear clinical correlation + normal karyotype

case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
08-
WU-N/
1-1

n.a.
2m
PBL
n.a.
failure to thrive (iso-UPD 8)
{619} case 10
08-
WU-N/
2-1

male
3y
PBL
n.a.
primary autosomal recessive microcephaly (gene MCPH1 in 8p23.2)
{828} 1 case
08-
WU-N/
3-1 to 3-2

n.a.
n.a.
n.a.
n.a.
n.a.
{982}
08-
WU-N/
3-3 to 3-4

n.a.
postnatal PBL
n.a.
autism spectrum disorder
{1450} 1 case
08-
WU-N/
4-1

n.a.
postnatal
PBL n.a.
Mild ID, low birth weight, autism, aggressive
(no gene identified - iUPD)
{1213} case N6
08-
WU-N/
5-1 to 7-1
n.a.
postnatal PBL
46,XN
different neurodev. disorders {1300} 3 cases
08-
WU-N/
8-1
n.a.
postnatal PBL
46,XN neurodev. disorder
(gene GDF6 in 
8q22.1 )
{1300} 1 case

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
08-
WU-N/
mos/
1-1

- - - - - -


mat or pat UPD-cases with or unclear clinical correlation+ balanced karyotype

case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
08-
WU-bal/
1-1
-
-
-
-
-
-


mat or pat UPD-cases with or unclear clinical findings + sSMC

case no.
case no. in sSMC database
gender/
age at diagnosis

studied
material

GTG-banding result
final FISH result of the sSMC
FISH
methods

clinical symptoms
reference
08-
WU-sSMC/
1-1
08-U-16
female/
postnatal
PBL
47,XX,+mar[20]
mar(8)(:p11.21p11.1:)
array: 40.69.-43.29 MB

array-CGH
segm. UPD 8q12.1 to 8q23.1

DD, short stature
{691}
08-
WU-sSMC/
2-1

08-U-17
female/
prenatal
AF
47,XX,+mar[20]
mar(8)(:p12q12:)
aCGH:
37.12-51.48 MB

aCGH
abnormal biochemistry, TOP; holoprosen-
cephaly

{730} case 9


segmental mat or pat UPD-cases with or unclear clinical correlation

case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
08-
WU-seg/
q23.1/
1-1

n.a.
postnatal
PBL
n.a.
---
i(UPD) in 8q23.1 to 8q22.31
no gene identified

clinically abnormal
{947} case 85
08-
WU-seg/
q24.21/
1-1

n.a.
postnatal
PBL
n.a.
---
i(UPD) in 8q24.21 to 8q24.22
no gene identified

clinically abnormal
{947} case 228

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
08-
WU-seg/
/
mos/
1-1

- - - - - -


mat or pat UPD-cases with or unclear clinical correlation + other imbalances

case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
08-
WU-imb/

1-1
n.a
n.a.
tissue
46,XN,der(8)(pter→p11.21:
:p12→qter)
in aCGH dup:
31.31-42.33 Mb
UPD(8)seg: 8pter→8p11.21
in aCGH: 0-31.31 Mb

cystic hygroma
{858} case 129
{1363} case 46
08-
WU-imb/

2-1
n.a.
25y
PBL
aCGH x3: 8p21.2-8p12
iUPD: 8pter-8p21.1

multiple congenital abnormalities
{1363} case 47
08-
WU-imb/

3-1
n.a.
prenatal
AF
aCGH x3:
8q24.13-8q24.3
 iUPD: 8q24.3-8qter

multiple  abnormalities in sonography
{1363} case 48
08-
WU-imb/

4-1 to 4-2
n.a.
prenatal PBL
46,XN,+8
acc. to NIPT

TOP
{1389} cases 117 and 137

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
08-
WU-imb/
mos/

1-1
- - - - - -