ChromosOmics - Database


Icon by Leon Liehr             

                                                     - 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 3-8 		n.a.
 postnatal PBL
 46,XN
 different neurodev. disorders- most llikely Temple syndrome {1300} 8 cases
14-
WU-N/
4-1 		n.a.
 prenatal AF
 n.a.
 DYS, TOP
 {1542} case 34
14-
WU-N/
5-1 		male prenatal AF
 46,XY
also UPD 1, 11 and 13 		DYS, TOP
 {1542} case 2

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		 -
 -
 -
 -
 -
 -