ChromosOmics - Database

                                                     - all CHROMOSOMES -                                                    
- maternal  UPD -

- ovarial teratoma can be/ is induced by complete maternal UPD {473; 474};

as tumor is not in the focus of this site corresponding reports are not collected


UPD unclear if maternal or paternal
all CHRs.

UPD PATERNAL
all  CHRs.
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
See reference 1298 for review on whole genome UPDs


mat UPD-cases without clinical findings + normal karyotype

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
all-
OmU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
all-
OmU-N/
mos/

1-1
- - - - - -


mat UPD-cases without clinical findings + balanced karyotype

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
all-
OmU-bal/
1-1

- - - - - -


mat 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
all-
OmU-sSMC/
1-1

- - - - - - - -


segmental mat UPD-cases without clinical findings

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
all-
OmU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
all-
OmU-seg/
/
mos/

1-1
- - - - - -


mat UPD-cases without clinical findings + other imbalances

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
all-
OmU-imb/

1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
all-
OmU-imb/

mos/
1-1

- - - - - -


mat 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
all-
WmU/

1-1 to 1-4
n.a.
n.a.
n.a.
n.a.
n.a.
{982}
all-
WmU/

1-5
n.a.
postnatal
PBL
n.a - called parthenogenic
Silver Russel syndrome like
{1266} 1 case
all-
WmU/

2-1
male
(phenotype!)
postnatal
PBL
46,XX
46,XX cells have maternal UPD
Silver Russel syndrome
{761}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
all-
WmU/
mos/

1-1
- - - - - -


mat 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
all-
WmU-bal/
1-1
- - - - - -


mat 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
all-
WmU-sSMC/
1-1

- - - - - - - -


segmental mat UPD-cases with or unclear clinical correlation

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
all-
WmU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
all-
WmU-seg/
/
mos/

1-1
- - - - - -


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

Additional possible cases with all(UPD)mat plus triploidy but without molecular genetic proof may be found here {1050}

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
all-
WmU-imb/
1-1

male
(phenotype!)
postnatal
PBL
46,XX/47,XXY
46,XX cells have maternal UPD
Silver Russel syndrome
{216} case P11
all-
WmU-imb/
2-1

female
prenatal
AF
48,XXX,+10[20]/
47,XXX[18]
still +10 was a cultural artifact!
one cellline wit and one without UPD

IUGR; DD; DYS; TOP
{1038}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
all-
WmU-imb/
mos/

1-1
female
2y
PBL
chi 45,X/46,XX
(between 18% and 84% cells with UPD of all chr
growth failure
{564}