ChromosOmics - Database

                                                     - CHROMOSOME 8 -                                                    
- paternal UPD -

UPD MATERNAL
 CHR . 8

UPD unclear if maternal or 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


pat UPD-cases without clinical findings + normal karyotype

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
08-
OpU-N/

1-1
female prenatal
AF, PBL
46,XX
NIPT sugested trisomy 8;
none prenatlly and none at 3y
{1376}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
08-
OpU-N/
mos/

1-1
- - - - - -


pat UPD-cases without clinical findings + balanced karyotype


case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
08-
OpU-bal/
1-1

- - - - - -


pat UPD-cases without clinical findings + sSMC

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

studied
material

GTG-banding result
grade of mosaicism

final FISH result of the sSMC
FISH
methods

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

- - - - - - - -


segmental pat UPD-cases without clinical findings

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
08-
OpU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
08-
OpU-seg/
/
mos/

1-1
- - - - - -


pat UPD-cases without clinical findings + other imbalances

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
08-
OpU-imb/

1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
08-
OpU-imb/
mos/

1-1

- - - - - -


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

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
08-
WpU-N/
1-1

female
prenatal and newborn
PBL
46,XX
lipoprotein lipase deficiency (gene LPL in 8p21.3)
{64}
08-
WpU-N/
2-1

n.a.
7y
PBL
n.a.
Asperger syndrome; attention deficit disorder (iso-UPD 8 - unclear if associated wirth any gene on chromosome 8)
{619} case 9
08-
WpU-N/
3-1

male
postnatal
PBL
n.a.
Congenital adrenal hyperplasia (gene CYP11B1 in 8q24.3)
{789}
08-
WpU-N/
4-1

female
12y
PBL
n.a.
spinal muscular atrophy with progressive myoclonic
epilepsy (gene
ASAH1 in 8p22)
{803; 862}
08-
WpU-N/
5-1

male
6y
PBL
n.a.
Hereditary motor and sensory neuropathy-type Lom (HMSNL), CMT4D (gene NDRG1 in 8q24.22)
{976} case 10
08-
WpU-N/
6-1 to 6-2

n.a.
n.a.
n.a.
n.a.
n.a.
{982}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
08-
WpU-N/
mos/
1-1

- - - - - -


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

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
08-
WpU-bal/
1-1
-
-
-
-
-
-


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
grade of mosaicism

final FISH result of the sSMC
FISH
methods

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

- - - - - - - -


segmental pat UPD-cases with or unclear clinical correlation

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
08-
WpU-seg/
pter/
1-1

female
newborn
PBL
n.a.
---
8pter to 8p13.3

lipoprotein lipase deficiency (gene LPL in 8p21.3)
{1003}
08-
WpU-seg/
q24.3/

1-1
male
newborn
PBL
n.a.
---
small segment in 8q24.3
epidermolysis bullosa simplex associated with pyloric atresia (gene PLEC1 in 8q24.3)
{508} case 2

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
08-
WpU-seg/
/
mos/
1-1

- - - - - -


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

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
08-
WpU-imb/
1-1
n.a.
n.a.
PBL
n.a.
aCGH: del(15)(q13.3q14) de novo
autism, learning disability (no gene identified) - most likely due to del(15)
{652}
case 19

08-
WpU-imb/
2-1

male
12y
PBL
n.a.
aCGH: der(8) with del and dup in 8p23.1
UPD in 8p23.1 to 8pter

At birth ASD type II;
at 12y DD, IQ = 50, obese

{1014}
08-
WpU-imb/
3-1

n.a.
newborn
PBL
46,XY,dup(8)(pter→p23.3: :p12→p23.3: :p23.3→qter)
---
8p23.3 to 8p12
motor and language delay, dysmorphic facial features, mild hypotonia
{491}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
08-
WpU-imb/
mos/

1-1
- - - - - -