ChromosOmics - Database

                                                     - CHROMOSOME 14 -                                                    
- unclear if maternal or paternal UPD -

UPD MATERNAL
 CHR . 14

UPD PATERNAL
 CHR . 14
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
clinical symptoms
reference
14-
OU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
14-
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
clinical symptoms
reference
14-
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
final FISH result of the sSMC
FISH
methods

clinical symptoms
reference
14-
OU-sSMC/
1-1

- - - - - - - -


segmental mat or pat UPD-cases without clinical findings

case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
14-
OU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
14-
OU-seg/
q12/
mos/

1-1
n.a.
adult
PBL
n.a.; acc. to array no imbalance in PBL
---
14q12 to 14qter (in 34% of PBL)
normal adult with bladder cancer
{545} case 787
14-
OU-seg/
q24.3/
mos/

1-1
n.a.
adult
PBL
n.a.; acc. to array no imbalance in PBL
---
14q24.3 to 14qter (in 18% of PBL)
normal adult with bladder cancer
{545} case 758


mat or pat UPD-cases without clinical findings + other imbalances

case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
14-
OU-imb/

1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
14-
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
clinical symptoms
reference
14-
WU-N/
1-1
n.a.
postnatal
PBL
n.a.
abnormal
{773}
14-
WU-N/
2-1
female
prenatal
PBL
46,XX
n.a.
{1289} case 3
14-
WU-N/
3-1 to 10-1
n.a.
postnatal PBL
46,XN
different neurodev. disorders- most llikely Temple syndrome {1300} 8 cases

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
14-
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
clinical symptoms
reference
14-
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
final FISH result of the sSMC
FISH
methods

clinical symptoms
reference
14-
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
clinical symptoms
reference
14-
WU-seg/
q13.2/

1-1
n.a.
postnatal
PBL
n.a.
---
14q13.2 to 14q23.2
neurodevelopmental disorder
(iso-UPD 14 - no gene identifed)
{1162} case 312

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
14-
WU-seg/
q12/
mos/

1-1
n.a.
9y
PBL n.a.
---
14q12 to 14qter
32.82
Mb [hg19]
25% mos
DD {1363} case 28
14-
WU-seg/
q22.1/
mos/

1-1
n.a.
3.5y
PBL n.a.
---
14q22 to 14qter
51.94
Mb [hg19]
27% mos
abnormal, autism {1363} case 29


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

for review of trisomy 14 and UPD see Ref {1443}


case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
14-
WU-imb/
1-1 to 1-3

n.a.
prenatal
chorion
mos 47,+14/46
n.a.
{902; 1057; 1058; 1059}
overall 3 cases

14-
WU-imb/
2-1
n.a.
n.a.
PBL
n.a.
copy number variant in Xp12 (aCGH)

most likely DYS and MR
size of UPD unclear
no gene identified

{828, 1170} 1 case

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
14-
WU-imb/
mos/
1-1
-
-
-
-
-
-