ChromosOmics - Database

                                                     - CHROMOSOME 2 -                                                    
- unclear if maternal or paternal UPD -

UPD MATERNAL
 CHR . 2

UPD PATERNAL
 CHR . 2
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
grade of mosaicism

clinical symptoms
reference
02-
OU-N/

1-1
female
prenatal
AF
46,XX
normal child born
{1308}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
02-
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
grade of mosaicism

clinical symptoms
reference
02-
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
grade of mosaicism

final FISH result of the sSMC
FISH
methods

clinical symptoms
reference
02-
OU-sSMC/
1-1

- - - - - - - -


segmental mat or pat UPD-cases without clinical findings

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
02-
OU-
seg/
q11/

1-1
female
adult
65 y
PBL
46,XX
---
2q11 to 2qter
normal female with 6 grandchildren
{506} case 6

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
02-
OU-
seg/
pter/
mos/

1-1
n.a.
adult
PBL
n.a. acc. to array no imbalance in PBL
---
2pter-2p25.2 (28% of the cells)
normal adult
{545} case 776
02-
OU-
seg/
q34/
mos/

1-1
n.a.
adult
PBL
n.a. acc. to array no imbalance in PBL
---
2q34 to 2qter (51% of the cells)
normal adult
{545} case 196
02-
OU-
seg/
q35/
mos/

1-1
n.a.
adult
PBL
n.a. acc. to array no imbalance in PBL
---
2q35 to 2qter (22% of the cells)
normal adult with bladder cancer
{545} case 954


mat or 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
02-
OU-imb/

1-1

n.a.
newborn
AF and PBL
NIPT: trisomy 2
normal child born
{1104} case 20

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
02-
OU-imb/

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
grade of mosaicism

clinical symptoms
reference
02-
WU-N/
1-1

n.a.
n.a.
PBL
n.a.
IUGR, postnatal short stature, macrocephaly, normal development, non-dysmorphic
{652} case 13
02-
WU-N/
2-1

n.a.
n.a.
PBL
n.a.
mitochondrial DNA depletion syndrome 3 (hepatocerebral type) (gene DGUOK in 2p13.1)
{656; 690} 1 case
02-
WU-N/
3-1

n.a.
n.a.
n.a.
n.a.
paternity testing
{1156} 1 case
02-
WU-N/
4-1

female
newborn
PBL
n.a.
GAPO-syndrome
(gene ANTXR1 in 2p13.3)
{1161}
02-
WU-N/
5-1

male
4y
PBL
n.a.
neurodevelopmental disorder
(iso-UPD 2 in 2p12p11.2 & 2q11.1q14.3 & 2p24.1p14 - no gene identifed)
{1162} case 147
02-
WU-N/
6-1

n.a.
postnatal
PBL
n.a.
Limb girdle myopathy (no gene identified - iUPD)
{1213} case N3
02-
WU-N/
7-1

male
16y
PBL
n.a.
deficiency of a vitamin K-dependent protein
(gene PROC in 2q14.3)
{1253}
02-
WU-N/
8-1 to 14-1
n.a.
postnatal PBL
46,XN
different neurodev. disorders {1300} 7 cases
02-
WU-N/
  15-1
n.a.
postnatal PBL
46,XN neurodev. disorder
(gene UNC80 in 2q34
)
{1300} 1 case
02-
WU-N/
  16-1
n.a.
postnatal PBL
46,XN neurodev. disorder
(gene SMARCAL1 in
2q35)
{1300} 1 case

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
02-
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
grade of mosaicism

clinical symptoms
reference
02-
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
grade of mosaicism

final FISH result of the sSMC
FISH
methods

clinical symptoms
reference
02-
WU-sSMC/
1-1

- - - - - - - -


segmental mat or 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
02-WU-
seg/
1-1
n.a.
postnatal
PBL
n.a.
---
exact localization not reported - only size of 35 and 61 Mb
IUGR, postnatal short stature, macrocephaly, normal development, non-dysmorphic
{652} case 14
02-WU-
seg/
2-1
n.a.
prenatal
AF
2p25.1-2p22.3
---
exact localization not reported - only size of 24.36 Mb - iUPD
fetal death
{1267} 1 case

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
02-WU-
seg/
mos/

1-1
- - - - - -


mat or 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
02-
WU-imb/
1-1

n.a.
prenatal
fibroblasts
n.a.; acc. to aCGH 1.6 Mb duplication in Xp22.31
abortion
{1042} case C-036
02-
WU-imb/
2-1

n.a.
prenatal CH
aCGH x3: 2p24.2-2p23.3
iUPD: 2pter-2p24.2
cystic hygroma {1363} case 41

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
02-
WU-imb/
mos/
1-1

n.a.
- - - - -