ChromosOmics - Database


Icon by Leon Liehr             

                                                     - CHROMOSOME 5 -                                                    
- unclear if maternal or paternal UPD -

UPD MATERNAL
 CHR . 5
 		UPD PATERNAL
 CHR . 5
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
05-
OU-N/
1-1
 - - - - - -

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
05-
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
05-
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
05-
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
05-
OU-seg/
/
1-1		 - - - - - -

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
05-
OU-seg/
q14.3/
mos/
1-1
 n.a.
 adult
 PBL
 n.a.; acc. to array no imbalance in PBL
---
  5q14.3 to 5q23.1 (in 12% of PBL)
 normal adult with gastrointestinal cancer
 {1083}
case in Tab 3


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

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
05-
OU-imb/
1-1
 - - - - - -

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
05-
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
05-
WU-N/
1-1
 male and female
 3y
 PBL
 n.a.
twins
 Laron dwarfism (gene GHR in 5p13.1~12)
 {828} 1 case
05-
WU-N/
2-1
 n.a.
 prenatal fibroblasts
 n.a.
 abortion
 {1042} case C-452
05-
WU-N/
2-2
 n.a.
 prenatal AF
 46,XY
 DYS, TOP
 {1542} case 3
05-
WU-N/
3-1
 n.a.
 prenatal trophectoderm biopsies
 n.a.
 n.a.
 {1131}
05-
WU-N/
4-1 to 5-1 		n.a.
 postnatal PBL
 46,XN
 different neurodev. disorders {1300} 2 cases
05-
WU-N/
6-1 		n.a.
 prenatal AF
 n.a.
 aorta coarctation, VSD {1578} case 15

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding
result
 clinical symptoms
 reference
05-
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
05-
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
05-
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
05-
WU-seg/
/
1-1
 - - - - - -

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding
result
 clinical symptoms
 reference
05-
WU-seg/
pter/
mos/
1-1
 n.a.
 prenatal
 CH n.a.
---
5pter to 5p13.2
36.85 Mb [hg19]
50% mos
 		prenatal anxiety {1363} case 20


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

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding
result
 clinical symptoms
 reference
05-
WU-imb/
1-1
 male
 prenatal
 AF
 47,XY,+5[5]/46,XY[10]
in PBL no +5
 sonographic abnormalities; postnatal DD and DYS
 {1009}
05-
WU-imb/
1-2
 female
 prenatal
 AF
 47,XX,+5/46,XX
in skin +5 in all cells
 sonographic abnormalities; TOP
 {1028}
05-
WU-imb/
1-3
 n.a.
 1.5y
 PBL
 aCGH x3: 5q31.2-5q31.3
iUPD: 5q31.3-5qter
 n.a.
 {1363} case 45

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding
result
 clinical symptoms
 reference
05-
WU-imb/
mos/
1-1
 - - - - - -