ChromosOmics - Database

                                                     - CHROMOSOME 15 -                                                    
- unclear if maternal or paternal UPD -

UPD MATERNAL
 CHR . 15

UPD PATERNAL
 CHR . 15
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
15-
OU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
15-
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
15-
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
15-
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
15-
OU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
15-
OU-seg/
/
mos/

1-1
- - - - - -


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
15-
OU-imb/

1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
15-
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
15-
WU-N/
1-1
n.a.
prenatal
AF
46,XN
abnormal sonography
{899} 1 case
15-
WU-N/
2-1

n.a.
postnatal
PBL
n.a.
abnormal
{947} case 227a
15-
WU-N/
3-1

n.a.
n.a.
n.a.
n.a.
paternity testing
{1156} 1 case
15-
WU-N/
4-1 to 20-1
n.a.
postnatal PBL
46,XN
different neurodev. disorders {1300} 17 cases

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
15-
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
15-
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
15-
WU-sSMC/
1-1

- - - - - - - -


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
15-
WU-seg/

1-1
n.a.
n.a.
PBL
n.a.
---
exact localization not reported - only size of 6 MB
severe global DD
{652} case 21
15-
WU-seg/

2-1
n.a.
n.a.
PBL
n.a.
---
exact localization not reported - only size of 30 MB
hypotonia in newborn
{652} case 22
15-
WU-seg/

3-1
n.a.
n.a.
PBL
n.a.
---
exact localization not reported - only size of 34 MB
?PWS
{652} case 23
15-
WU-seg/
q11.2/
1-1

n.a.
~3y
PBL
n.a.
---
15q11.2 (size 1.068 Mb)

intellectual diability, DYS, feeding problems, DD
{924}
case 10

15-
WU-seg/
q11.2/
2-1

n.a.
4y
PBL
n.a.
---
15q11.2 (size 1.158 Mb)

intellectual diability, DYS, hyperactive, DYS, seizures
{924}
case 11

15-
WU-seg/
q11.2/
3-1

n.a.
5y
PBL
n.a.
---
15q11.2 (size 1.002 Mb)

intellectual diability, DYS, hyperactive, DYS, seizures
{924}
case 12

15-
WU-seg/
q11.2/
4-1

n.a.
5y
PBL
n.a.
---
15q11.2 (size 1.067 Mb)

DD, autism, DYS
{924}
case 13

15-
WU-seg/
q11.2/
5-1

n.a.
18y
PBL
n.a.
---
15q11.2 (size 1.224 Mb)

intellectual diability, others
{924}
case 14

15-
WU-seg/
q21.3/
1-1

n.a.
n.a
PBL
n.a.
---
15q21.3 to q24.1
(only iUPD of this region)

no PWS, or AS most likely dymorphic and MR
no gene identified

{828; 1170} 1 case
15-
WU-seg/
q23/
1-1

n.a.
prenatal
fibroblasts
n.a.
---
15q23 to q24.1
(only iUPD of this region studied)

abortion
{1042} case C-1140

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
15-
WU-seg/
q22.31/
mos/
1-1

n.a.
prenatal
CH n.a.
---
15q22.31 to 15qter
64.73
Mb [hg19]
30% mos
 sonograph. abnomalies {1363} case 31


mat or 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
15-
WU-imb/
1-1

n.a.
prenatal
free fetal DNA
mos 47,+15/46
n.a.
{878; 887}
15-
WU-imb/
1-2 to 1-3

n.a.
prenatal
chorion
mos 47,+15/46
n.a.
{902; 1057; 1058; 1059}
overall 2 cases

15-
WU-imb/
1-4 to 1-5

n.a.
n.a. n.a. mos 47,+15/46
n.a.
{1170} 2 cases
15-
WU-imb/
1-6 to 1-8

n.a.
prenatal n.a. mos 47,+15/46
n.a.
{1190} 3 cases

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
15-
WU-imb/
mos/
1-1

n.a.
12y
PBL n.a.
---
15q13.3 to 15q15.2
15q15.2 to 15q22.31
15q22.31 to 15qter
size overall 71.24 Mb [hg19]
15, 46 and 75% mos
in aCGH also mosaic del(15)(q25.1q25.3)
clinically abnormal, incl. short stature; microdel 15q25.2 like {1363} case 30