ChromosOmics - Database

                                                     - all CHROMOSOMES -                                                    
- paternal UPD -


- hydatidiform mole can be / is induced by complete paternal UPD {473; 474; 833; 1342; 1371}
examples see below
Acc. to {1191} only ~3.5% of hydatiform mole are due to UPD
 


UPD MATERNAL
all CHRs.

UPD unclear if maternal or 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


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
all-
OpU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
all-
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
all-
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
all-
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
all-
OpU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
all-
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
all-
OpU-imb/

1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
all-
OpU-imb/
mos/

1-1

- - - - - -


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

Acc. to {1171} 72/26101 consecutive miscarriages = 0.3% are due to UPD(all)pat!

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

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

n.a.
postnatal
PBL
46,XX
Beckwith Wiedemann and Wilms tumor
{759}
all-
WpU-N/
1-2

female
~1y
PBL
46,XX
Beckwith Wiedemann and hepatic mesenchymal hamartoma
{760}
all-
WpU-N/
1-3

female
newborn
PBL
n.a.
multiple malformations typical for Beckwith Wiedemann
{786}
all-
WpU-N/
1-4

female
newborn
PBL
46,XX
multiple malformations typical for Beckwith Wiedemann
{826}
all-
WpU-N/
1-5

female
newborn
PBL 46,XX
BWS
{894}
all-
WpU-N/
1-6 to 1-12

female
postnatal
PBL
46,XX
BWS
{935} 7 cases
all-
WpU-N/
1-13

male
postnatal
PBL
46,XY/?46,XX
46,XY cells have paternal isodisomy

BWS {935} case 21-027
all-
WpU-N/
1-14

n.a.
postnatal
PBL
n.a.
BWS
{1035}
all-
WpU-N/
1-15 to 1-17

male
postnatal
PBL
46,XX/46,XY
UPD in XX cell line

BWS
{1088}
all-
WpU-N/
1-18

female
19y
PBL
46,XX
BWS and tumore
{1136}
all-
WpU-N/
1-19

female
postnatal
PBL
46,XX
BWS
{1137}
all-
WpU-N/
1-20

female
postnatal PBL
46,XX
BWS
{1138}
all-
WpU-N/
1-21

male
~4m
PBL
46,XY[27]/46,XX[5]
UPD in XX cell line

BWS
{1148, 1270}
all-
WpU-N/
1-22

female
~2y
PBL
46,XX
BWS mainly, but also other symptoms
{1165}
all-
WpU-N/
1-23 to 1-24

n.a.
postnatal
PBL
n.a.
n.a.
{1173} 2 cases; {1340} cases P15, P16
all-
WpU-N/
1-25 to 1-27

n.a. postnatal
PBL
n.a.
BWS
{1270, 1271} 3 cases
all-
WpU-N/
2-1
female
prenatal
AF, placenta
46,XX in child
46,XX in placenta, cells have paternal isodisomy
Complete hydatidiform mole and normal live birth
{467}
all-
WpU-N/
2-2
female
prenatal
AF, placenta
46,XX in child
46,XX in placenta,cells have paternal isodisomy
Complete hydatidiform mole and TOP
{596}
all-
WpU-N/
2-3

female
prenatal
AF,
fibroblasts
46,XX in child
46,XX in placenta,cells have paternal isodisomy
Complete hydatidiform mole and stillbirth
{701}
all-
WpU-N/
2-4

male
prenatal
AF, placenta
46,XY in child
46,XY/46,XX in placenta,
46,XX cells have paternal isodisomy

Complete hydatidiform mole and normal live birth
{468}
all-
WpU-N/
2-5 to 2-12

n.a.
prenatal
fetus
n.a.
Complete hydatidiformand aborted
{967} 8 cases
all-
WpU-N/
2-13

n.a.
prenatal
fetus
n.a.
Complete hydatidiformand in twon pregnancy
{1234}
all-
WpU-N/
3-1
n.a.
prenatal/ abortion
AF, tissue
46,XX/46,XY
46,XY cells have paternal isodisomy
spontaneous abortion
{455}
all-
WpU-N/
3-2
n.a.
postnatal
PBL
46,XY/46,XX
46,XY cells have paternal isodisomy
n.a.
{435}
all-
WpU-N/
3-3
female
postnatal
PBL
46,XX/46,XY
46,XX cells have paternal isodisomy
n.a.
{384}
all-
WpU-N/
3-4 to3-6

n.a.
prenatal
fibroblasts
n.a.
paternal UPD

abortion
{865}
all-
WpU-N/
4-1
male
postnatal
PBL
46,XX/46,XY only in a few tissues (not in blood; in blood 46,XY)
46,XX cells have paternal isodisomy
some tissues are abnormal and also overgrowth of e.g. a toe.
{1084}
all-
WpU-N/
5-1 to 5-4

n.a.
n.a.
n.a.
n.a.
n.a.
{982}
all-
WpU-N/
5-5

n.a.
n.a.
n.a.
n.a.
Complete hydatidiformand {1170} 1 case
all-
WpU-N/
6-1

female
prenatal
placenta/ AF
46,XX in fetus/
placenta 46,XX/46,XY
46,XY is UPD(all)pat

normal child born
{1043} case 1

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
all-
WpU-N/
mos/
1-1 to 1-2

female
postnatal
PBL
46,XX
molecular studies show evidence for mosaic state of uniparental and biparental inheritance but no triploidy
multiple 'minor' malformations growth retardation; IQ at lower average range; resembling to Beckwith Wiedemann syndrome
{383; 974 - refer. case 2}
all-
WpU-N/
mos/
1-3

female
postnatal
PBL
46,XX
molecular studies show evidence for mosaic state of uniparental and biparental inheritance but no triploidy
multiple 'minor' malformations growth retardation; IQ at lower average range; resembling to Beckwith Wiedemann syndrome
{454}
all-
WpU-N/
mos/
1-4

female
4y
PBL
46,XX
molecular studies show evidence for mosaic state of uniparental and biparental inheritance but no triploidy
multiple 'minor' malformations growth retardation; Beckwith Wiedemann and upd(14)pat syndrome
{603}
all-
WpU-N/
mos/
1-5

female
adult
PBL
46,XX
molecular studies show evidence for mosaic state of uniparental and biparental inheritance but no triploidy
multiple 'minor' malformations growth retardation; Beckwith Wiedemann
{604}
all-
WpU-N/
mos/
1-6

female
19y
PBL
46,XX
molecular studies show evidence for mosaic state of uniparental and biparental inheritance but no triploidy
multiple 'minor' malformations growth retardation; Beckwith Wiedemann
{673}
all-
WpU-N/
mos/
1-7

female
prenatal
AF
46,XX
molecular studies show evidence for mosaic state of uniparental and biparental inheritance but no triploidy
multiple 'minor' malformations growth retardation; Beckwith Wiedemann
{681}
all-
WpU-N/
mos/
1-8

female
postnatal
PBL
46,XX
molecular studies show evidence for mosaic state of uniparental and biparental inheritance but no triploidy
multiple 'minor' malformations growth retardation; Beckwith Wiedemann
{720}
all-
WpU-N/
mos/
1-9 to 1-12

female
postnatal
PBL
46,XX
molecular studies show evidence for mosaic state of uniparental and biparental inheritance but no triploidy
multiple 'minor' malformations growth retardation; Beckwith Wiedemann - enhanced tumor risk detected for such cases
{751}
all-
WpU-N/
mos/
1-13

female
16y
PBL
n.a.
UPD in skin 12%; in blodd 0%; in 4 tumors between 20 and 94%

BWS and recurent virilizing adrenocortical tumors
{856}
all-
WpU-N/
mos/
2-1

female
postnatal
PBL
46,XX
mosaic status of UPD and not UPD in blood and salvia but normal biparental in disomy in skin and biliary duct

deafness, no malignancies
{1071}
all-
WpU-N/
mos/

3-1 to 3-2
female
prenatal
AF, placenta, PBL
46,XX
46,XX cells in placenta have in parts paternal isodisomy
placental mesenchymal dysplasia
{469} cases 1 and 2
all-
WpU-N/
mos/
3-3 to 3-4

female
prenatal
AF, placenta, PBL
46,XX
46 cells in placenta have in parts paternal isodisomy
placental mesenchymal dysplasia
{470} cases 1 and 2
all-
WpU-N/
mos/

4-1
female
prenatal
AF, placenta, PBL
46,XX
46,XX cells in placenta have in parts paternal isodisomy
Complete hydatidiform mole
{500} 1 case


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
all-
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
all-
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
all-
WpU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

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

1-1
- - - - - -


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

Additional possible cases with all(UPD)pat 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-
WpU-imb/
1-1
female
prenatal
AF
47,XX,+13
Complete hydatidiform mole, TOP
{560}
all-
WpU-imb/
2-1
male
prenatal
AF
69,XXY/46,XY
46,XY cells have paternal isodisomy

boy with BWS born
{610} case 1
all-
WpU-imb/
3-1
female
prenatal
AF
69,XXX/46,XX
46,XX cells have paternal isodisomy

spontaneous intrauterine death
{610} case 2
all-
WpU-imb/
3-2

female
prenatal
AF
69,XXX/46,XX
46,XX cells have paternal isodisomy

Complete hydatidiform mole, TOP
{1043} case 3
all-
WpU-imb/
4-1

female
6m
PBL
47,XX,+21/46,XX cells 46,XX cells have paternal isodisomy
Down syndrome, BWS, Wilmstumor
{897 = 920}
all-
WpU-imb/
5-1

female
prenatal
AF
47,XX,+9/46,XX
cells with 47 chr. have UPD(all)pat

DD; DYS, ?BWS;
TOP

{1043} case 2

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
all-
WpU-
imb/
mos/
1-1

- - - - - -