ChromosOmics - Database

                                                     - CHROMOSOME 1 -                                                    
- paternal UPD -

UPD MATERNAL
 CHR . 1

UPD unclear if maternal or paternal
 CHR . 1
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 karotype

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
01-
OpU-N/
1-1

male
22y
PBL
46,XY[71]/
46,XY,1qh+,1qh+[29]

normal male detected by chance by RH-D factor determination
{271} case 1
01-
OpU-N/
1-2

female
23y
PBL
46,XX
normal female detected by chance by RH-D factor determination
{271} case 2
01-
OpU-N/
1-3

n.a.
child
PBL
n.a.
normal person detected by chance during paternity test
{578}
01-
OpU-N/
2-1

n.a.
n.a.
PBL
46,XN
normal person detected by chance during screening for schizophrenia locus
{72} 1 case

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
01-
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
01-
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
01-
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
01-
OpU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
01-
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
01-
OpU-imb/

1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
01-
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
01-
WpU-N/
1-1

male
newborn
PBL
46,XY
pycnodysostosis (gene CTSK in 1q21.3)
{65}
01-
WpU-N/
2-1

female
2m
PBL
n.a.
epidermolysis bullosa, junctional, Herlitz type (gene LAMC2 in 1q25.3)
{66}
01-
WpU-N/
3-1

male
2y
PBL
46,XY
congenital insensitivity to pain with anhidrosis (gene CIPA in 1q23.1)
{67; 223}
01-
WpU-N/
4-1

female
2y
PBL
n.a.
Usher syndrome type II with retinitis pigmentosa (gene USH2A in 1q41)
{68}
01-
WpU-N/
5-1

male
51y
PBL
46,XY
retinal dystrophy (gene RPE65 in 1p31.1)
{69; 511}
01-
WpU-N/
6-1

female
4m
PBL
n.a.
fumarase deficiency (gene FH in 1q43)
{73}
01-
WpU-N/
7-1

female
15y
PBL
n.a.
Stargardt disease 1 (gene ABCA4 in 1p22.1)
{74}
01-
WpU-N/
7-2

n.a.
postnatal
PBL
n.a.
Stargardt disease 1 (gene ABCA4 in 1p22.1)
and Parkinson disease
(gene
PARK7 in 1p36.23) 
{1340} case P3
01-
WpU-N/
8-1

male
1.5y
PBL
46,XY
Charcot-Marie-Tooth 1B (gene MPZ in 1q23.3) and Gaucher disease Type III (gene GBA in 1q22)
{75}
01-
WpU-N/
9-1

n.a.
1y
PBL
46,XN
susceptibility to atypical hemolytic uremic syndrome 2 (gene CD46 in 1q32.2)
{181}
01-
WpU-N/
10-1

male
8m
PBL
46,XY
Chediak-Higashi syndrome (gene CHS1 in 1q42.3)
{546}
01-
WpU-N/
11-1

male
newborn
PBL
n.a.
rhizomelic chrondrodysplasia punctata type 2 (gene GNPAT in 1q42.2)
{571}
01-
WpU-N/
12-1

n.a.
6m
PBL
n.a.
complement factor H deficiency and endocapillary glomerulonephritis (gene HF1 in 1q31.3)
{601; 781}
01-
WpU-N/
12-2

male
9m
PBL
n.a.
complement factor H deficiency and endocapillary glomerulonephritis (gene HF1 in 1q31.3)
{781}
01-
WpU-N/
13-1

n.a.
6y
PBL
n.a.
neonatal seizures, extreme hypotonia, profound MR, extreme cortical blindness. (iso UPD 1 - gene not identified)
{619} case 2
01-
WpU-N/
14-1

male
26y
PBL
n.a.
morbid obesity due to leptin receptor deficiency (gene LEPR in 1p31.3)
{722}
01-
WpU-N/
15-1

female
6y
PBL
n.a.
camptodactyly-arthropathy-coxa vara-pericarditis syndrome (gene PRG4 in 1q31.1)
{752} patient 4

01-
WpU-N/
16-1

n.a.
postnatal
PBL
n.a.
see below
{763} case 258370
Short attention span, moderately short stature, joint hypermobility, impaired T cell function, IgG deficiency, slow-growing hair, high anterior hairline, abnormality of the nasal tip, abnormality of the skeletal system, hypermetropia
01-
WpU-N/
17-1

n.a.
postnatal
PBL
n.a.
infantile hypophosphatasia (gene ALPL in 1p36.12)
{779}
01-
WpU-N/
18-1

n.a.
postnatal
PBL
n.a.
3-hydroxy-3-methylglutaryl-CoA lyase deficiency (gene HMGCL in 1p36.11)
{873}
01-
WpU-N/
19-1

n.a.
postnatal
PBL
n.a.
Kabuki syndrome (gene RAP1 gene in 1p36.12)
{911}
01-
WpU-N/
20-1

female
19m
PBL
n.a.
infantile neuronal ceroid lipofuscinosis (gene PPT1 in 1p34.2)
{954; 981}
01-
WpU-N/
20-2

n.a.
5y
PBL
n.a.
infantile neuronal ceroid lipofuscinosis (gene PPT1 in 1p34.2)
{980}
01-
WpU-N/
21-1 to 21-2

n.a.
n.a.
n.a.
n.a.
n.a.
{982}
01-
WpU-N/
22-1

female
3y
PBL
n.a.
Dihydropyrimidine dehydrogenase deficiency (gene DPYD in 1p21.3)
{1085}
01-
WpU-N/
23-1

male
15y
PBL
n.a.
neurdevelopmental disorder  (gene SZT2 in 1p34.2)
{1125}
01-
WpU-N/
24-1

male
18y
PBL
n.a.
glycogen storage disease type III  (gene AGL in 1p21.2)
{1146}
01-
WpU-N/
24-2

female
1.5y
PBL
n.a.
glycogen storage disease type III  (gene AGL in 1p21.2)
{1159} case 1
01-
WpU-N/
25-1

n.a.
postnatal
PBL
n.a.
Mild ID, epilepsy, attention deficit–hyperactivity
disorder, clumsy walking; no gene identified (iUPD)

{1213} case V1
01-
WpU-N/
26-1

male
6y
PBL
n.a.
Steroid-resistant
nephrotic
syndrome
(gene NPHS2 in 1q25.2)
unclear if segmental or whole chr.
{1220} patient 5
01-
WpU-N/
27-1

female
4y
PBL
n.a.
glycogen storage disease type III  (gene AGL in 1p21.2)
and 

Usher syndrome type II with retinitis pigmentosa (gene USH2A in 1q41)
{1332}
01-
WpU-N/
28-1

n.a.
postnatal PBL
n.a. autosomal recessive early-onset form of Parkinson’s disease (gene PARK7  in 1p36.23) {1333; 1359}
01-
WpU-N/
29-1

n.a.
postnatal PBL
n.a.
Mitochondrial DNA depletion syndrome 7
(gene
HMGCS2 in 1p12)
{1368} patient 2
01-
WpU-N/
30-1

female
newborn
PBL
46,XX
epidermolysis bullosa, junctional, Herlitz type (gene LAMB3 in 1q32.2)
{70}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
01-
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
01-
WpU-bal/
1-1
female
43y
PBL
46,XX,i(1)(p10),i(1)(q10)
see below
{71}
minor facial anomalies, myopathy, sterility, short stature, hearing loss, downward slant of palpebral fissures, bilateral ptosis, severe micro/retrognathia, high arched palate, and scoliosis


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
01-
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
01-
WpU-seg/
pter/

1-1
male
'prenatal'
fetal tissue
46,XY
---
1pter to 1p21
infantile hypophosphatasia (gene ALPL in 1p36.12), TOP
{369}
01-
WpU-seg/
pter/

2-1
female
15y
PBL
46,XX
---
1pter to 1p34 and 1q24.1 to 1qter
Hypomyelinating leukodystrophy 2 (gene GJC2 in 1q42.13)
{372}
01-
WpU-seg/
pter/

3-1
n.a.
prenatal
AF
n.a.
---
1pter to 1p36.31
only SNP-array

nephronophthisis
 (gene NPHP4 n 1p36.31)
{1346} case 5
01-
WpU-seg/
p22.3/
1-1

n.a.
n.a.
PBL
n.a.
---
1p22.3 to 1q23.3

juvenile hemochromatosis type 2a (gene HJV in 1q21.1)
{801}
01-
WpU-seg/
p21/

1-1
female
2y
PBL
46,XX
–--
1p21 to 1p13
Stargardt disease 1 (gene ABCA4 in 1p22.1)
{300}
01-
WpU-seg/
q31.3/

1-1
n.a.
postnatal
PBL
n.a.
---
1q31.3; 73MB
Leber congenital amaurosis 8 (gene CRB1 in 1q31.3)
{501}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
01-
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
01-
WpU-imb/
1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
01-
WpU-imb/
mos/
1-1

- - - - - -