ChromosOmics - Database

                                                     - CHROMOSOME 7 -                                                    
- paternal UPD -

UPD MATERNAL
 CHR . 7

UPD unclear if maternal or paternal
 CHR . 7
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
07-
OpU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
07-
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
07-
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
07-
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
07-
OpU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
07-
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
07-
OpU-imb/

1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
07-
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
07-
WpU-N/
1-1
male?
n.a.
PBL
n.a.
cystic fibrosis and primary ciliary dyskinesia with situs inversus totalis (gene CFTR in 7q31.2)
{80; 168}
07-
WpU-N/
1-2

male
33y
PBL
n.a.
cystic fibrosis mutation leading to congenital bilateral absence of the vas deferens (gene CFTR in 7q31.2)
{505}
07-
WpU-N/
1-3

female
postnatal
PBL
n.a.
cystic fibrosis (gene CFTR in 7q31.2)
{246}
07-
WpU-N/
2-1
male
postnatal
PBL
n.a.
cystic fibrosis, overweight, developmental delay (gene CFTR in 7q31.2)
{166}
07-
WpU-N/
2-2
male
postnatal
PBL
46,XY
cystic fibrosis, developmental delay (gene CFTR in 7q31.2)
{170} case 17
07-
WpU-N/
3-1
female
23y
PBL
n.a.
congenital chloride diarrhea Finnish type (gene SLC26A3 in 7q31.1)
{114; 118}
07-
WpU-N/
4-1 to 4-2

n.a.
n.a.
n.a.
n.a.
n.a.
{982}
07-
WpU-N/
5-1

male
5y
PBL
n.a.
overgrowth; no disease causing gene identified
{1055}
07-
WpU-N/
6-1

male
see also
15-
WpU-N/
7-1
newborn
PBL
46,XY
UPD(15)pat; UPD(7)pat
AS and UPD(7)pat {1356}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
07-
WpU-N/
mos/
5-1

- - - - - -


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
07-
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
07-
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
07-
WpU-
seg/
pter/

1-1
female
prenatal
AF; PBL
46,XX,i(7)(p10),i(7)(q10)
---
7pter to 7p10
growth retardation; SRS like
{42}
07-
WpU-
seg/
pter/

1-2
male
newborn
PBL
46,XY,i(7)(p10),i(7)(q10)
---
7pter to 7p10
growth retardation; SRS like
{415}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
07-
WpU-
seg/
/
mos/

1-1
- - - - - -


pat UPD-cases with or unclear clinical correlation + other imbalances

no UPD 7 detected in 247 cases diagnosed with trisomy 7 in NIPT {1306}

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
07-
WpU-imb/

1-1
male
newborn
PBL
45,XY,psu dic(7;7)(p22;p22)
lethal osteosclerotic bone dysplasia, who died 2 h after birth (gene FAM20C in 7p22.3)
{502}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
07-
WpU-imb/
mos/

1-1
- - - - - -