ChromosOmics - Database

                                                     - CHROMOSOME 22 -                                                    
- paternal UPD -

UPD MATERNAL
 CHR . 22

UPD unclear if maternal or paternal
 CHR . 22
UPD-cases without clinical findings
+ normal karyotype
UPD-cases with or unclear clinical
correlation + normal karyotype

UPD-cases without clinical findings
+ balanced karotype
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
22-
OpU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
22-
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
22-
OpU-bal/
1-1

male
postnatal
PBL
45,XY,der(22;22)(q10;q10)pat
normal male; detected due to repeated abortions in mother
{283}
22-
OpU-bal/
1-2

female
postnatal
PBL
45,XX,der(22;22)(q10;q10)pat
normal female; repeated abortions
{796}


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
22-
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
22-
OpU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
22-
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
22-
OpU-imb/

1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
22-
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
22-
WpU-N/
1-1
n.a.
n.a.
n.a.
n.a.
n.a.
{401}
22-
WpU-N/
2-1

male
postnatal
PBL
46,XY
metachromatic leukodystrophy (gene ARSA in 22q13.33)
{717}
22-
WpU-N/
3-1

female
newborn
PBL
46,XX
PLA2G6-associated neurodegeneration (gene PLA2G6 in 22q13.1)
{1049}
22-
WpU-N/
4-1

n.a.
children
PBL
n.a.
orofacial cleft
no gene identified

{1105} 1 case

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
22-
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
22-
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
22-
WpU-sSMC/
1-1

22-U-82
n.a./
prenatal

AF
47,XN,+mar[?100%]
mar(22)
aCGH
DD; DYS; TOP
{1033} case 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
22-
WpU-seg/
/
1-1

-
-
-
-
-
-

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
22-
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
22-
WpU-imb/
1-1

female
n.a.
PBL
46,XX,del(22)(q13.2)[73]/46,XX[27]
---
22q13.2 to 22qter in normal cell line
Phelan-McDermid
syndrome

{162}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
22-
WpU-imb/
mos/
1-1
-
-
-
-
-
-