ChromosOmics - Database

                                                     - CHROMOSOME 5 -                                                    
- paternal UPD -

UPD MATERNAL
 CHR . 5

UPD unclear if maternal or paternal
 CHR . 5
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
05-
OpU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
05-
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
05-
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
05-
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
05-
OpU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
05-
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
05-
OpU-
imb/
1-1

male
prenatal
chorion, AF; PBL
47,XY,+5 in chorion
46,XY in AF and PBL
IUGR; normal at birth
iUPD(5)pat after trisomic rescue!
At 1 years, central hypotonia, lack of coordination, torticollis, and delay in motor skills

{1112; 0} provided by the family

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
05-
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
05-
WpU-N/
1-1
male
2y
PBL
46,XY
spinal muscular atrophy 1 (gene SMN in 5q13.2) {400}
05-
WpU-N/
2-1

female
prenatal
AF/PBL
46,XX
Autosomal recessive multiple epiphyseal dysplasia (EDM4/rMED) (gene SLC26A2 in 5q32)
{793}
05-
WpU-N/
3-1

male
1y
PBL
46,XY
Delayed growth, macrocrania, hypospadias, psychomotor DD (no gene identified) {896} case 1
05-
WpU-N/
4-1

male
5y
PBL
n.a.
Kilquist syndrome (gene SLC12A2 in 5q23.3)
{1087}
05-
WpU-N/
5-1

female
22y
PBL
n.a.
Hereditary sensory and autonomic neuropathy (HSAN) 2B (gene RETREG1  in 5p15.1) {1204}
05-
WpU-N/
6-1

female
1y
PBL
n.a.
mitochondrial complex I respiratory chain disorder (gene NDUFS4 in 5q11.2) {1262}
05-
WpU-N/
7-1

female
9y
PBL
n.a.
folliculin Interacting Protein 1 deficiency (gene FNIP1  in 5q31.1) {1276} case P2

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
05-
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
05-
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
05-
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
05-
WpU-seg/
p15.31/

1-1
female
n.a.
PBL
n.a.
---
5p15.31 to 5p15.31
cbl E type homocystinuria- megaloblastic anemia
(gene
MTRR in 5p15.31)
{651} case 2
05-
WpU-seg/
q?/

1-1
n.a.
postnatal
PBL
n.a.
---
5q?-5q?
  Diencephalic-Mesencephalic Junction Dysplasia syndrome 1 ordiencephalic-mesencephalic junction dysplasia
(gene
PCDH12  in 5q31.3)
{1340} case P9
05-
WpU-seg/
q11.2/
1-1

male
2y
PBL
46,XY,del(5)(q11.1q11.2)
---
5q11.2 to qter

MR, autism, scoliosis
(no gene identified)

{895} {896} case 10
05-
WpU-seg/
q32/

1-1
female
9y
PBL
n.a.
---
5q32 to 5qter
schizophrenia 1 (gene SCZD1 in 5q32-5qter)
{445}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
05-
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
05-
WpU-imb/
1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
05-
WpU-imb/
mos/
1-1

- - - - - -