ChromosOmics - Database

                                                     - X-CHROMOSOME -                                                    
- maternal  UPD -

- in 75% of Turner syndrome patients remaining X-chromosome is of maternal origin {443} leading to less social adaptation {526}

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

- at least a certain percentage of Klinefelter syndrome patients might be considered as kind of mat UPD X


UPD unclear if maternal or paternal
X-CHR .

UPD 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


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
0X-
OmU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

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

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

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

1-1

female
prenatal
Ch; PBL
Ch: 45,X/46,XX
PBL: 46,XX

none
{1108}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
0X-
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
0X-
WmU-N/
1-1
female
6y
PBL
46,XX
Duchenne muscular dystrophy (gene DMD in Xp21.1)
{297}
0X-
WmU-N/
1-2
female
45y
PBL
46,XX
Duchenne muscular dystrophy (gene DMD in Xp21.1)
{0} (case 398-10)
0X-
WmU-N/
2-1 to 2-2

n.a.
n.a.
n.a.
n.a.
n.a.
{982}
0X-
WmU-N/
3-1
female
3y
PBL
46,XX
Fragile XY syndrome (gene FMR1 in Xq27.3)
{1210}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
0X-
WmU-N/
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
0X-
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
0X-
WmU-sSMC/
1-1

- - - - - - - -


segmental mat UPD-cases with or unclear clinical correlation

N.B.: partial duplications in X-chr. in male may lead to UPD {806}

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
0X-
WmU-seg/
q27.2/

1-1
female
14m
PBL
n.a.
---
Xq27.2 to Xqter
hemophilia B (gene F9 in Xq27.1)
{322}
0X-
WmU-seg/
q25/

1-1
n.a.
newborn
PBL
n.a.
---
Xq25 to Xqter;
  125.95 Mb
[hg19]
fragile X syndrome (gene FMR1 in Xq27.3)
{619} case 38; {1363} case 13

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
0X-
WmU-seg/
/
mos/

1-1
- - - - - -


mat 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-
WmU-imb/
1-1

female
postnatal
PBL
45,X/46,XX
short stature, Turner syndrome features
{302}
0X-
WmU-imb/
2-1

female
postnatal
PBL
45,X[80%]/
46,X,+del(X)(q13.2)[?%]/
46,X,r(X)(p22.3q13.2)[?%]
mat isoUPD X
short stature, Turner syndrome features
{471}
0X-
WmU-imb/
3-1

male
3y
PBL
47,XXY
complete androgen insensitivity
{489}
0X-
WmU-imb/
3-2

n.a.
prenatal
CH
CH: 47,XXY/46,XX
in normal cell line mat UPD 16 and mat UPD X
IUGR, TOP
{306} case 93.48
0X-
WmU-imb/
3-3

male
5y
PBL
47,XXY
MR due to fra X (iso-UPD X) fragile X syndrome (gene FMR1 in Xq27.3)
{619} case 15
0X-
WmU-imb/
4-1

female
22y
PBL
47,XXY
Androgen insensitivity syndrome (gene AR in Xq12)
{1046}
0X-
WmU-imb/
5-1

male
n.a.
n.a.
48,XXXY
n.a.
{250} 1 case
0X-
WmU-imb/
6-1

female
n.a.
n.a.
48,XXXX
n.a.
{250} 1 case
0X-
WmU-imb/
7-1 to 7-4

male
n.a.
n.a.
49,XXXXY
n.a.
{250} 4 cases
0X-
WmU-imb/
7-4
to 7-14

male
n.a.
n.a.
49,XXXXY
n.a.
{537-538 and 540-542} 10 cases
0X-
WmU-imb/
8-1

female
postnatal
PBL
49,XXXXX
DD
{264}
0X-
WmU-imb/
8-2 to 8-3

female
postnatal
PBL 49,XXXXX
DD
{538 and 539}
0X-
WmU-imb/
9-1

female
postnatal
PBL

46,X,idic(X)(p11.2)[10%]/46,XX[90%]
mat UPD X in normal cell line
DD {625}
0X-
WmU-imb/
10-1

male
35y
PBL
46,XX[15]/45,X[3]/ 46,XY[12]
infertile male
{785}
0X-
WmU-imb/
10-2

unclear
child
PBL
mos 46,XX/45,X/ 46,XY
DMD (gene DMD in Xp21.1)
{906}
0X-
WmU-imb/
11-1

male
postnatal
PBL
47,XXY
Klinefelter and X-linked ichthyosis, and severe central nervous system regression  due to del(X)(p22.31p22.31) {1338}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
0X-
WmU-imb/
mos/
1-1
- - - - - -