ChromosOmics - Database


Icon by Leon Liehr             

                                                     - CHROMOSOME 4 -                                                    
- paternal UPD -

UPD MATERNAL
 CHR . 4
 		UPD unclear if maternal or paternal
 CHR . 4
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
 clinical symptoms
 reference
04-
OpU-N/
1-1
 - - - - - -

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
04-
OpU-N/
mos/
1-1
 - - - - - -


pat UPD-cases without clinical findings + balanced karyotype

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
04-
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
 final FISH result of the sSMC
 FISH
methods
 clinical symptoms
 reference
04-
OpU-sSMC/
1-1
 - - - - - - - -


segmental pat UPD-cases without clinical findings

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
04-
OpU-seg/
/
1-1
 - - - - - -

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
04-
OpU-seg/
/
mos/
1-1
 - - - - - -


pat UPD-cases without clinical findings + other imbalances

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
04-
OpU-imb/
1-1
 - - - - - -

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
04-
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
 clinical symptoms
 reference
O4-
WpU-N/
1-1
 male
 newborn
 PBL
 46,XY
 prenatal: polyhydramnions, renal anomalies; postnatal: renal anomalies, DYS, retard. psychomotor development - gene not identifed
 {573} case 29
O4-
WpU-N/
2-1
 female
 newborn
 PBL
 n.a.
 mild variant phenotype of maple syrup urine disease (gene PPM1K in 4q22.1) {714}
O4-
WpU-N/
3-1
 female
 4 years
 PBL
 46,XX
 autism spectrum isorder, has a Chiari I malformation/ spinal dimple
(gene FAT4 in 4q28.1 - most likely not disease causing)
 {0} provided by family
O4-
WpU-N/
4-1 to 4-2
 n.a.
 n.a.
 n.a.
 n.a.
 n.a.
 {982}
O4-
WpU-N/
5-1
 n.a.
 postnatal
 PBL
 n.a.
 Severe Iintellectal, developmental and speech delay,
epilepsy (iUPD - no gene identified)
 {1213} case N4
O4-
WpU-N/
6-1 		female
 prenatal AF
 46,XX
UPD(14)pat and UPD(4)pat and UPD(10)pat
KOS14 
{1476} patient 2
O4-
WpU-N/
7-1
 male
 4y
 PBL
 n.a.
 Proximal renal tubular acidosis  (gene SLC4A4  in 4q13.3) {1501}
O4-
WpU-N/
8-1
 female
 44y
 PBL
 n.a.
 SNCA-Related Parkinson's Disease  (gene SCNA  in 4q22.1) {1543}
O4-
WpU-N/
9-1
 male
 9y
 PBL
 n.a.
 mucopolysaccharidosis type I
  (gene IDUA in 4p16.3)		 {1563} 1 case
O4-
WpU-N/
10-1
 female
 49y
 PBL
 n.a.
 LRBA Deficiency
  (gene LRBA in 4q31.3)		 {1573}
O4-
WpU-N/
11-1
 n.a. prenatal AF
 n.a.
 DYS {1604} case 3 in App. 3

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
O4-
WpU-N/
mos/
1-1
 - - - - - -


pat UPD-cases with or unclear clinical correlation+ balanced karyotype

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
04-
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
 final FISH result of the sSMC
 FISH
methods
 clinical symptoms
 reference
04-
WpU-sSMC/
1-1
 - - - - - - - -


segmental pat UPD-cases with or unclear clinical correlation

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
04-
WpU-seg/
pter/
1-1
 n.a.
 postnatal
 PBL
 n.a.
---
4p16
 Wolfram syndrome 1
(gene WFS1 in 4p16.1)
hUPD plus new mutation
 {719}
04-
WpU-seg/
q32.3/
1-1
 n.a.
 postnatal
 PBL
 n.a.
---
4q32.3 to 4q35.1
 recessive limb-girdle muscular dystrophy-18 (gene TRAPPC11 in 4q35.1)
 {1370}

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
04-
WpU-seg/
/
mos/
1-1
 n.a.
 - - - - -


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

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
04-
WpU-imb/
1-1
 n.a.
 prenatal PBL
 46,XN,+4
acc. to NIPT
 TOP
 {1389} case 106

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
04-
WpU-imb/
mos/
1-1
 - - - - - -