ChromosOmics - Database

                                                     - CHROMOSOME 22 -                                                    
- maternal  UPD -

UPD unclear if maternal or paternal
 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 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


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
22-
OmU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

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

female
adult
PBL
45,XX,der(22;22)(q10;q10)mat
none apart from repeated abortions
{235}
22-
OmU-
bal/
1-2

female
n.a.
PBL
45,XX,der(22;22)(q10;q10)mat
none apart from repeated abortions in mother
{284}
22-
OmU-
bal/
1-3

female
postnatal
PBL
45,XX,der(22;22)(q10;q10)
none
{304} case 5
22-
OmU-
bal/
1-4

male
25y
PBL
45,XX,der(22;22)(q10;q10)dn
none; repeated abortions in female partner
{318}
22-
OmU-bal/
1-5

male
postnatal
PBL
45,XY,der(22;22)(q10;q10)dn
none; repeated abortions in female partner
{796}


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
22-
OmU-sSMC/
1-1
22-O-
q11/
2-1
female/
1y
PBL
47,XX,+mar[11]/
46,XX[39]
min(22)(:p11.1q11:)
cenM
see below
{33}
child born without any clinical signs; in placenta and umbilical cord material mosaic of 46,XX/47,XX+22/47,XX+mar


segmental mat UPD-cases without clinical findings

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
22-
OmU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

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

female
pre- and postnatal
chorion, AF, PBL
47,XX,+22 in chorion
46,XX in AF and PBL
normal at birth
{544}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
22-
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
22-
WmU-N/
1-1

n.a.
prenatal
AF
n.a.
malformations; no gene identified
{483}
22-
WmU-N/
2-1

male
11y
PBL
n.a.
recessive congenital methemoglobinemia (gene CYB5R3 in 22q13.2)
{688}
22-
WmU-N/
3-1

n.a.
postnatal
PBL
n.a.
infantile neuroaxonal dystrophy 1 (gene PLA2G6 in 22q13.1)
{692}
22-
WmU-N/
3-2

female
postnatal
PBL
n.a.
infantile neuroaxonal dystrophy 1 (gene PLA2G6 in 22q13.1)
{790}
22-
WmU-N/
3-3

male
4y
PBL
n.a.
n.a.
(gene
PLA2G6 in 22q13.1)
{841} case 97
22-
WmU-N/
4-1

female
2m
PBL
n.a.
megalencephalis leukocephalopathy
(gene
MLC1 in 22q13.31)
{951} case PT15
22-
WmU-N/
4-2

female
~1-2y
PBL
n.a.
megalencephalis leukocephalopathy
(gene
MLC1 in 22q13.31)
{1024}
patient 1

22-
WmU-N/
5-1

n.a.
pernatal
fetus
n.a.
iso-UPD - but no gene identified
{967} 1 case
22-
WmU-N/
6-1

n.a.
n.a.
n.a.
n.a.
n.a.
{982}
22-
WmU-N/
7-1

n.a.
postnatal
n.a.
n.a.
Mild ID, small height, low weight
{1213} case V8

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

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


mat UPD-cases with or unclear clinical findings + sSMC

case no.
case no. in sSMC database
gender/
age at
Diagnose
studied
material

GTG-banding result
grade of mosaicism

final FISH result of the sSMC
FISH
methods

clinical symptoms
reference
22-
WmU-
sSMC/
1-1
22-
Wces-
-5-81
n.a./
n.a.
details not listed
47,+inv dup(22)
Cat-eye syndrome
{433} case 7; {434} case 36


segmental mat 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-
WmU-seg/
pter/
1-1

female
8y
PBL
n.a.
---
22pter to 22q13.1
childhood schizophrenia and facial DYS (gene possibly COMT in 22q11.21)
{666} case 3

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
22-
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
22-
WmU-imb/
1-1
male
prenatal
placenta
PBL
46,XY in PBL
47,XY,+22 in placenta
growth retardation, DYS
{78}
{194} 1 case

22-
WmU-imb/
1-2
female
prenatal
placenta
PBL skin fibros
46,XX in PBL
mosaic in skin fibros
47,XX,+22 in placenta
growth retardation, DYS
{149}
22-
WmU-imb/
1-3
n.a.
prenatal
CH
PBL skin fibros
46 in PBL
mosaic in skin fibros
47,+22 in placenta
growth retardation
{306}case 95.64 {484}
22-
WmU-imb/
1-4
male
prenatal
PBL
47,XY,+22/46,XY in PBL
IUGR, slight MR
{485}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

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