ChromosOmics - Database

                                                     - X-CHROMOSOME -                                                    
- paternal UPD -

- skewed X-chromosome inactivation might be considered as kind of UPD - see Ref {244; 839}

- in 25% of Turner syndrome patients remaining X-chromosome is of paternal origin {443} leading to more social adaptation {526}


UPD MATERNAL
  X-CHR .

UPD unclear if maternal or paternal
  X-CHR 
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
0X-
OpU-
N/
1-1

female
28y
PBL
46,XX
pat transmission of both X
recurrent miscarriages (iso-UPD X)
{619} case 16
0X-
OpU-
2/
1-2

female
prenatal and newborn
free placental DNA
placenta
PBL
46,XX
none as 7 d old baby (iso-UPD X)
{1077}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
0X-
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
0X-
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
0X-
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
0X-
OpU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
0X-
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
0X-
OpU-imb/

1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
0X-
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
0X-
WpU-N/
1-1
male
n.a.
n.a.
46,XY
pat transmission of X and Y
hemophilia A (gene F8 in Xq28)
{396}
0X-
WpU-N/
2-1
female
n.a.
n.a.
46,XX
pat transmission of both X
mild MR, short stature, hypotonia - no gene identified
{411} 1 case
0X-
WpU-N/
3-1

male
19y
PBL
46,XY
pat transmission of X and Y

ectodermal dysplasia, hypodontia (gene ED1 in Xq13.1)
{518}
0X-
WpU-N/
4-1 to 4-2

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
0X-
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
0X-
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
0X-
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
0X-
WpU-seg/
q13.1/

1-1
n.a.
2y
PBL
n.a.
---
Xq13.1 to Xqter;
  70.22 Mb
[hg19]
congenital abnormalities
{1363} case 14

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
0X-
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
0X-
WpU-imb/
1-1 to 1-4
male
n.a.
n.a.
48,XXYY
n.a.
{250} 4 cases
0X-
WpU-imb/
1-5 to 1-8
male
n.a.
n.a.
48,XXYY
n.a.
{537-538} 4 cases
0X-
WpU-imb/
2-1
male
n.a.
n.a.
48,XXXY
n.a.
{538} 1 case

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
0X-
WpU-imb/
mos/

1-1 t
-
-
-
-
-
-