ChromosOmics - Database

                                                     - CHROMOSOME 7 -                                                    
- unclear if maternal or paternal UPD -

UPD MATERNAL
 CHR . 7

UPD 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

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
07-
OU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
07-
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
07-
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
07-
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
07-
OU-
seg/
/
1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
07-
OU-
seg/
q11.2/
mos/

1-1
n.a.
adult
PBL
n.a.; acc. to array no imbalance in PBL
---
7q11.2 to 7q21.3 (29% of cells) and 7q21.3 to 7qter (18% of cells)
normal adult with bladder cancer
{545} case 1105
07-
OU-
seg/
q11.22/
mos/

1-1
n.a.
adult
PBL
n.a. acc. to array duplication of 1p35.2-1p32.2 in 74% of PBL
---
1pter to 1p35.2 (55% of cells) and 7q11.22 to 7qter (48% of cells)
normal control
{545} case 468


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
07-
OU-imb/

1-1

n.a.
newborn
AF and PBL
NIPT: trisomy 7
in PBL: iUPD(7) in 7q11.23-q21.11

normal child born
{1104} case 43

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
07-
OU-imb/
mos/

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
07-
WU-N/

1-1
female 2y PBL n.a.
also UPD 13
see also 
13-WU-N/
2
-1
DD, MR, dyslalia, ataxia
{1080} p16

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
07-
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
07-
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
07-
WU-sSMC/
1-1

07-
U-19
female/
6y
PBL
de novo
47,XX,+mar[?100%]
r(7)(::p11.2q11.23::)
aCGH: 70.42-73.21 Mb
iso-UPD 7 of normal chrs. 7
macrocephaly, DD, self injury behavior
{635}


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
07-
WU-seg/
p14.3/

1-1
n.a.
postnatal
PBL
n.a.
---
7p14.3 to 7p14.1
neurodevelopmental disorder
(iso-UPD 7 - no gene identifed)
{1162} case 346
07-
WU-seg/
p21.1p14.1/
1-1

male
n.a.
PBL
n.a.
---
7p21.1-14.1 (size 22.36 Mb)

n.a.
{1021} case 14
07-
WU-seg/
p21.13/

1-1
n.a.
postnatal
PBL
n.a.
---
7q21.13 to 7q31.1
neurodevelopmental disorder
(iso-UPD 7 - no gene identifed)
{1162} case 169
07-
WU-seg/
q21.3/

1-1
n.a.
5y
PBL
n.a.
---
7q21.3 (size 1.098 Mb)
DD, autism, hyperactivity
{924}
case 1

07-
WU-seg/
q21.3/
2-1

n.a.
11y
PBL
n.a.
---
7q21.3 (size 1.062 Mb)

DD, intellectual disability
{924}
case 2

07-
WU-seg/
q31.33-32.3/

1-1
n.a.
2y
PBL
n.a.
---
7q31.33-32.3 (size 4.257 Mb)

DD, intellectual disability, microcephaly, seizures, hypotonia, DYS
{924}
case 3

07-
WU-seg/
q31.33-32.3/
2-1

n.a.
2.5y
PBL
n.a.
---
7q31.33-32.3 (size 1.089 Mb)

DD, intellectual disability, microcephaly, seizures, hypotonia, DYS
{924}
case 4

07-
WU-seg/
q32.1-34/
1-1

female 60y PBL
n.a.
---
7q32.1-34 (size 9.8Mb)
iUPD

erythrocytosis - gene BPGM in 7q33 {1772}
07-
WU-seg/
q32.2/
1-1

n.a.
3y
PBL
n.a.
---
7q32.2 (size 1.033 Mb)

DD, intellectual disability, DYS
{924}
case 5

07-
WU-seg/
q32.2/
2-1

n.a.
15y
PBL
n.a.
---
7q32.2 (size 1.020 Mb)

DD, intellectual disability, heart defect
{924}
case 6


mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

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

1-1
- - - - - -


mat or 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-
WU-imb/
1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
07-
WU-imb/
mos/
1-1

- - - - - -