ChromosOmics - Database

                                                     - CHROMOSOME 2 -                                                    
- paternal UPD -

UPD MATERNAL
 CHR . 2

UPD unclear if maternal or 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


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-
OpU-N/
1-1
male
adult
PBL
n.a.
none - detceted during a genome wide SNP scan
{232}
02-
OpU-N/
1-2

male
postnatal
PBL
n.a.
none - paternity test
{696}
02-
OpU-N/
1-3

female
postnatal
PBL
n.a.
none - paternity test
{961}
02-
OpU-N/
1-4

female
postnatal
PBL
n.a.
none - paternity test
{1091}
02-
OpU-N/
1-5

female
postnatal
PBL
n.a.
none
{1143}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
02-
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
02-
OpU-bal/
1-1

- - - - - -


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-
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
02-
OpU-seg/
pter/

1-1
female
36y
PBL
46,XX,i(2)(p10),i(2)(q10)
---
2pter to 2p11
normal female,  repeated abortions
{58}
{348; 349} family 4

02-
OpU-seg/
pter/

1-2
male
34y
PBL
46,XY,i(2)(p10),i(2)(q10)
---
2pter to 2p11
normal male repeated abortions in female partner
{450}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
02-
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
02-
OpU-imb/

1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
02-
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
02-
WpU-N/
1-1
male
14y
PBL
46,XY
pseudovaginal perineoscrotal hypospadias (gene SRD5A2 in 2p23.1)
{133 = 709}
02-
WpU-N/
2-1
male
9y
PBL
46,XY
Donnai-Barrow syndrome (gene LRP2 in 2q31.1)
{228}
02-
WpU-N/
3-1
male
newborn
PBL
n.a.
Crigler-Najjar type I syndrome (gene UGT1A1 in 2q37.1)
{291}
02-
WpU-N/
4-1
male
newborn
PBL
n.a.
see below
{345} case 2
severe intellectual disability, DYS (deep set eyes, right ptosis, hypoplastic alanase, very curly hair), atrial septal defect, ventricular septal defect, hypoplastic aortic arch and left ventricle, multiple arteriovenous malformation , mild coarctation, hypoplasia of cerebellar vermis. Short stature, microcephaly, gastric esophageal reflux, poor feeding and pulmonary hypertension.
02-
WpU-N/
5-1
female
adult
PBL
46,XX
retinitis pigmentosa 38 (gene MERTK in 2q13)
{69}
02-
WpU-N/
6-1
female
newborn
PBL
n.a.
juvenile or adult onsetcongenitalprimary open angle glaucoma 3A (gene CYP1B1 in 2p22.2)
{488}
02-
WpU-N/
6-2
male
15y
PBL
n.a.
juvenile or adult onsetcongenitalprimary open angle glaucoma 3A (gene CYP1B1 in 2p22.2)
{710}
02-
WpU-N/
7-1
female
newborn
PBL
n.a.
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (gene HADHA/ LCHAD in 2p23.2)
{572}
02-
WpU-N/
8-1
n.a.
1y 4 m
PBL
n.a.
abnormal phenotype
{619} case 3
02-
WpU-N/
9-1
male
5y 6 m
PBL
n.a.
progressive familial intrahepatic cholestasis 2 (gene ABCB11 in 2q31.1)
{665; 712; 888; 932}
02-
WpU-N/
10-1

male
10y
PBL
n.a.
Escobar syndrome (gene CHRNG in 2q37.1)
{841} case 432
02-
WpU-N/
11-1

male
postnatal
PBL
n.a.
Vitamin K-dependent coagulant factor deficiency (VKCFD) (gene GGCX in 2p11.2)
{975}
02-
WpU-N/
12-1 to 12-3

n.a.
n.a.
n.a.
n.a.
n.a.
{982}
02-
WpU-N/
13-1
n.a.
prenatal
AF
n.a.
lethal multiple pterygium syndrome (gene CHRND in 2q37.1)
{1061}
02-
WpU-N/
14-1

female
postnatal
PBL
n.a.
achromatopsia (gene CNGA3 in 2q11.2)
{1064; 1329}
02-
WpU-N/
15-1

female
2y
PBL
n.a.
nemaline myopathy 2 (gene NEB in 2q23.2)
{1073} case 1
02-
WpU-N/
16-1

male
3y
PBL
n.a.
Jalili syndrome (gene CNNM4 in 2q11.2)
{1217} patient 3
02-
WpU-N/
17-1

male
4y
PBL
n.a.
Schimke
immunoosseous
dysplasia
(gene SMARCAL1  in 2q35)
unclear if segmental or whole chr.

{1220} patient 1
02-
WpU-N/
17-2

male
5y
PBL
n.a.
SRS and Schimke
immunoosseous
dysplasia
(gene SMARCAL1  in 2q35)
{1364}
02-
WpU-N/
18-1

n.a.
pre and postnatal
AF and PBL
n.a.
postnatal hypotonia and MR
{1221} case 112
02-
WpU-N/
19-1

male
1.6y
PBL
n.a.
Warburg Micro Syndrome 1 (gene RAB3GAP1  in 2q21.3) {1230} case 112
02-
WpU-N/
20-1

male
newborn
PBL
n.a.
Mitochondrial DNA depletion syndrome (gene DGUOK  in 2p13.1) {1251}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

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

- - - - - - - -


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
02-
WpU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
02-
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
02-
WpU-imb/
1-1
female
newborn
CH; PBL
47,XX,+2 in CH
46,XX in PBL
harlequin ichthyosis (gene ABCA12 in 2q35)
{127}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
02-
WpU-imb/
mos/

1-1
- - - - - -