ChromosOmics - Database

                                                     - CHROMOSOME 9 -                                                    
- paternal UPD -

UPD MATERNAL
 CHR . 9

UPD unclear if maternal or paternal
 CHR . 9
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
09-
OpU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
09-
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
09-
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
09-
OpU-sSMC/
1-1
09-O-
p12/
5-2

male/
prental
PBL
48,XY,+mar,+r[4]/
47,XY,+mar[25]/
47,XY,+r[1]/
46,XY[6]

min(9)(:p11.1q1?2:)/
r(9)(p12→q1?2)

aCGH; cep9
AMA, normal sonography, normal child born
{996}


segmental pat UPD-cases without clinical findings

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
09-
OpU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
09-
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
09-
OpU-imb/

1-1

male
prenatal
AF
47,XXY[19]/
46,XY[81]

normal at age of 3.5y
{1149}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
09-
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
09-
WpU-N/
1-1

female
20y
n.a.
n.a.
Amyotrophic lateral sclerosis 16, juvenile (gene SIGMAR1 in 9p13.3)
{841} case 450
09-
WpU-N/
2-1

n.a.
n.a.
n.a.
n.a.
n.a.
{982}
09-
WpU-N/
3-1

female
~1y
PBL
n.a.
besides UPD(9)pat
also UPD(10)mat

Leigh syndrome (gene SURF1  in  9q34.2) {1159} case 2

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
09-
WpU-N/
mos/

1-1
n.a.
prenatal
n.a.
n.a.
mosaic pat UPD 9
twin pregnancy, abnormal; no further info available
{480}


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
09-
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
09-
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
09-
WpU-seg/
/
1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
09-
WpU-seg/
/
mos/
1-1
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
09-
WpU-imb/
1-1
n.a.
prenatal
n.a.
47,+9/46
n.a.
{479}
09-
WpU-imb/
1-2

female
prenatal and 2y
NIPT/PBL
47,XX,+9[17%]/
46,XX[83%]

IUGR, VSD, MR, DYS, hypotonia
{890}
09-
WpU-imb/
3-1
n.a.
postnatal
PBL
n.a.
---
duplication and triplication in 9q12-9q21.11 and UPD

n.a.
{908}
case BAB4539


mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
09-
WpU-imb/
mos/

1-1
- -
-
-
-
-