ChromosOmics - Database


Icon by Leon Liehr             

                                                     - CHROMOSOME 3 -                                                    
- maternal  UPD -

UPD unclear if maternal or paternal
 CHR . 3
 		UPD PATERNAL
 CHR . 3
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 karotype
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 UPD-cases without clinical findings + normal karyotype

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
03-
OmU-N/
1-1
 - - - - - -

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
03-
OmU-N/
mos/
1-1
 - - - - - -


mat UPD-cases without clinical findings + balanced karyotype

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
03-
OmU-bal/
1-1
 - - - - - -


mat 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
03-
OmU-sSMC/
1-1
 - - - - - - - -


segmental mat UPD-cases without clinical findings

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
03-
OmU-seg/
/
1-1
 - - - - - -

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
03-
OmU-seg/
/
mos/
1-1
 - - - - - -


mat UPD-cases without clinical findings + other imbalances

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
03-
OmU-imb/
1-1
 - - - - - -

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
03-
OmU-imb/
mos/
1-1
 - - - - - -


mat UPD-cases with or unclear clinical correlation + normal karyotype

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
03-
WmU-N/
1-1
 male
 newborn
 PBL
 n.a.
 Epidermolysis bulbosa (gene COL7A1 in 3p21.31)
{167}
03-
WmU-N/
1-2
 n.a.
 newborn
 PBL
 n.a.
 Epidermolysis bulbosa (gene COL7A1 in 3p21.31)
{504}
03-
WmU-N/
2-1
 female
 5 weeks
 PBL
 n.a.
 Fanconi-Bickel syndrome (gene GLUT2 in 3q26.2
 {213}
03-
WmU-N/
3-1
 female
 newborn
 PBL
 46,XX
 Congenital disorder of glycosylation type Id (gene ALG3 in 3q27.1)
 {321}
03-
WmU-N/
4-1
 n.a.
 postnatal/
child
 PBL
 n.a.
 Autosomal recessive GM1 gangliosidosis (gene GLB1 in 3p22.3)
 {795}
03-
WmU-N/
5-1
 n.a.
 n.a.
 n.a.
 n.a.
 n.a.
 {982}
03-
WmU-N/
6-1
 n.a.
 postnatal/
child
 PBL
 n.a.
 autosomal recessive woolly hair/hypotrichosis (gene LIPH in 3q27.2)
 {1246}
03-
WmU-N/
7-1
 n.a.
 postnatal/
child
 PBL
 n.a.
 Chanarin-Dorfman syndrome
(gene ABHD5 in 3p21.33)
 {1335}

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
03-
WmU-N/
mos/
1-1
 female
 4m
 PBL
 n.a.
mosaic UPD in 75% of the cells
 moderate ID, epilepsy and autistic behaviour; Rett.-syndrome like regression - possible responsible SRGAP3-gene in 3p25.3
 {919} case 7


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

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
03-
WmU-bal/
1-1
 female
 postnatal
 PBL
 46,XX,inv(3)(p12q24)x2 mat
 MR
 {476}


mat 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
03-
WmU-sSMC/
1-1
 03-
U-8
 female/
prenatal
 CH, AF
 47,XX,+mar[100%]
 min(3)(:p12.2→q10:)*
 BAC probes
 see below
 {3}
twin pregnancy; in chorion (short term culture) in twin 2 a trisomy 3 (100%) was detected; in long term culture in 100% of cells had sSMC; twin 2 significantly shorter than twin 1; sSMC also found in amnion cells; selective fetocide was done, however, after 3 weeks death delivery of both twins.


segmental mat UPD-cases with or unclear clinical correlation

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
03-
WmU-seg/
1-1
 n.a.
 postnatal PBL
 n.a.
---
exact localization not reported - only size of 17 MB
 Global DD, normal development, non-dysmorphic, gene n.d.
 {652} case 15
03-
WmU-seg/
2-1
 n.a.
 postnatal
 PBL
 n.a.
---
exact localization or size not reported
Patella aplasia, radioulnar synostosis, brachydactyly
 {1213} case V3

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
03-
WmU-seg/
/
mos/
1-1
 - - - - - -


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

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
03-
WmU-imb/
1-1
 n.a.
 		24y
 PBL, buccal mucosa
 at 4 y: 46,XN,der(3)t(3;4)(p22;q35)[40%]/46,XN[60%]
at 24y der(3) only in 5%
---
3pter to 3p22.1;
  43.13 Mb [hg19]		 DD, obesity, hearing loss
 {1363} case 6
03-
WmU-imb/
1-1
 n.a.
 prenatal PBL
 46,XN,+3
acc. to NIPT
 no further info available
 {1389} case 104

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
03-
WmU-imb/
mos/
1-1
 n.a.
 - - - - -