ChromosOmics - Database


Icon by Leon Liehr             

                                                     - CHROMOSOME 22 -                                                    
- unclear if maternal or paternal UPD -

UPD MATERNAL
 CHR . 22

UPD 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 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 or pat UPD-cases without clinical findings + normal karyotype

case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
22-
OU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
22-
OU-N/
mos/

1-1
- - - - - -


mat or pat UPD-cases without clinical findings + balanced karyotype

case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
22-
OU-bal/
1-1

- - - - - -


mat or pat UPD-cases without clinical findings + sSMC

case no.
case no. in sSMC database
gender/
age at diagnosis

studied
material

GTG-banding result
final FISH result of the sSMC
FISH
methods

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

- - - - - - - -


segmental mat or pat UPD-cases without clinical findings

case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
22-
OU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
22-
OU-seg/
/
mos/

1-1
- - - - - -


mat or pat UPD-cases without clinical findings + other imbalances

case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
22-
OU-imb/

1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
22-
OU-imb/
mos/

1-1

- - - - - -


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

case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
22-
WU-N/

1-1
n.a.
prenatal
fetus
n.a.
iso-UPD - but no gene identified
{967} 1 case
22-
WU-N/

2-1
n.a.
postnatal
PBL
n.a.
Endometrial, thyroid, sigmoid, breast, and
kidney cancer;

iso-UPD - but no gene identified
{1213} case N14
22-
WU-N/
3-1 to 9-1
n.a.
postnatal PBL
46,XN
different neurodev. disorders {1300} 7 cases
22-
WU-N/
  10-1
n.a.
postnatal PBL
46,XN neurodev. disorder
(gene CYB5R3 in
22q13.2)
{1300} 1 case
22-
WU-N/
  11-1
n.a.
postnatal PBL
46,XN neurodev. disorder
(gene NCAPH2 in
22q13.33)
{1300} 1 case
22-
WU-N/
  12-1
n.a.
postnatal PBL
46,XN neurodev. disorder
(gene ARSA in
22q13.33)
{1300} 1 case

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
22-
WU-N/
mos/

1-1
- - - - - -


mat or pat UPD-cases with or unclear clinical correlation+ balanced karyotype

case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
22-
WU-bal/
1-1
-
-
-
-
-
-


mat or 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
final FISH result of the sSMC
FISH
methods

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

22-
Uu-2
male/
prenatal
AF 47,XY,+mar[100%} inv dup(22)(q12.1)
arr(hg19):
break im 27,421,632
aCGH in NIPT +22, TOP {1226} case 11


segmental mat or pat UPD-cases with or unclear clinical correlation

case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
22-
WU-seg/
q13.1/

1-1
n.a.
n.a.
PBL
46,XN
---
22q11.31 to 22qter

mitochondrial DNA depletion syndrome 1 (gene TYMP in 22q13.33)
{656; 690} 1 case
22-
WU-seg/
q12.1/

1-1
male
5y PBL
n.a.
---
22q12.1 to 22q13.1
neurodevelopmental disorder
(iso-UPD 22 - no gene identifed)
{1162} case 209

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
22-
WU-seg/
q11.21/
mos/

1-1
n.a.
4y
PBL
46,XN
---
22q11.21 to 22qter (in 20% of PBL)
macrocephaly, DD, soft tissue leasion in neck, frontal hair whorl
{652} case 12
22-
WU-seg/
q11.23/
mos/

1-1
n.a.
newborn
PBL n.a.
---
22q11.23 to 22qter
21.1
Mb [hg19]
50% mos
abnormal NIPT with fetal death {1363} case 35


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

case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
22-
WU-imb/

1-1
n.a
1y
PBL
46,XN,der(22)(pter→q13.31:
:q13.2→qter)
in aCGH dup:
42.56-47.74 Mb
UPD(22)seg: 22q13.31→22qter
in aCGH: 47.74-51.14 Mb

microcephaly
{858} case 133
{1363} case 53
22-
WU-imb/

2-1
n.a
prenatal
chorion; PBL
mos 47,+22/46
IUGR; otherwise normal
{1113}
case 10

22-
WU-imb/

3-1
n.a.
n.a.
PBL
n.a.
---
22q12.2 to 22q?ter
also dup(22)(q12.1q12.2)

most likely DYS  and MR
{828; 1170} 1 case
22-
WU-imb/

4-1
male
2y
PBL
n.a.
---
22q13.1 to 22q13.33
neurodevelopmental disorder
(iso-UPD 22 - no gene identifed) but also 4 copies of 22q12.3 to 22q13.1 and mosaic gain of UPD region
{1162} case 443

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
22-
WU-imb/
mos/

1-1
-
-
-
-
-
-