ChromosOmics - Database


Icon by Leon Liehr             

                                                     - CHROMOSOME 13 -                                                    
- maternal  UPD -

UPD unclear if maternal or paternal
 CHR . 13
 		UPD PATERNAL
 CHR . 13
UPD-cases without clinical findings
+ normal karyotype		 UPD-cases with or unclear clinical
correlation + normal karyotype
UPD-cases without clinical findings
+ balanced karotype 		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 UPD-cases without clinical findings + normal karyotype

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
13-
OmU-N/
1-1
 - - - - - -

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
13-
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
13-
OmU-
bal/1-1
 male
 5y
 PBL
 45,XY,der(13;13)(p11.2;p11.2)mat
 normal male
 {326}
13-
OmU-
bal/1-2
 female
 23y
 PBL
 45,XX,der(13;13)(q10;q10)mat
 normal female
 {339}
13-
OmU-
bal/1-3
 male
 n.a.
 PBL
 45,XY,der(13;13)(q10;q10)mat and grandpat
 normal male
 {471}


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
13-
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
13-
OmU-seg/
q21.1/
1-1
 n.a. prenatal placental DNA NIPT suggested a recue of 46,XN,del(13)(q21.1)
none after birth {1375} case 1

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
13-
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
13-
OmU-imb/
1-1
 - - - - - -

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
13-
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
13-
WmU-N/
1-1
 male
 6y
 PBL
 n.a.
 prelingual hearing impairment with pointmutation in connexin26 (gene GJB2 in 13q12.11)
 {59} case E112
13-
WmU-N/
1-2
 female
 2y
 PBL
 n.a.
 prelingual hearing impairment with pointmutation in connexin26 (gene GJB2 in 13q12.11)
 {59} case E232
13-
WmU-N/
2-1
 n.a.
 n.a.
 n.a.
 n.a.
 n.a.
 {982}
13-
WmU-N/
3-1
 female
 ~1y
 PBL
 46,XX
 infantile hypotonia with psychomotor retardation and characteristic faces 1 - IHPRF1 (gene NALCN in 13q32.3~33.1)
 {1041}
case 2
13-
WmU-N/
3-2
 n.a.
 postnatal
 PBL
 n.a.
 infantile hypotonia with psychomotor retardation and characteristic faces 1 - IHPRF1 (gene NALCN in 13q32.3~33.1)
 {1442}
13-
WmU-N/
4-1
 male
 11y
 PBL
 n.a.
 Wilsons disease (gene ATP7B in 13q14.3)
 {1506} case 19
13-
WmU-N/
5-1
 n.a.
 postnatal
 PBL
 n.a.
 DD
(no gene identified)
 {1604} case 3 in App. 2

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
13-
WmU-N/
mos/
1-1
 n.a.
 postnatal
 PBL
 n.a.
UPD in mosaic
 hearing impairment (gene GJB2 in 13q12.11)
 {1328} 1 case


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

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
13-
WmU-bal/
1-1 		-
 -
 -
 -
 -
 -


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
13-
WmU-sSMC/
1-1
 - - - - - - - -


segmental mat UPD-cases with or unclear clinical correlation

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
13-
WmU-seg/
1-1
 n.a. prenatal
 ?AF
 n.a.
---
exact localization or size not reported
Intrauterine growth retardation, clenched hands, rockerbottom feet, horseshoe kidney,
double system
 {1213} case N9
13-
WmU-seg/
q14.11/
1-1
 female
 n.a.
 PBL
 n.a.
---
13q14.11 to 13q34
 Wilsons disease (gene ATP7B in 13q14.3)
 {736} 1 case
13-
WmU-seg/
q21.1/
1-1
 n.a.
 prenatal AF
 in NIPT 13qdel
---
13q21.1 to 13qter
 n.a.
 {1604} case 2 in App. 4
13-
WmU-seg/
q32.3/
1-1
 female
 n.a.
 PBL
 n.a.
---
13q32.3 to 13q33.3
 propionicacidemia (gene PCCA in 13q32.3)
 {651} case 1

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
13-
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
13-
WmU-imb/
1-1
 female
 prenatal
 AF
 46,XX,+13,der(13;13)(q10;q10)mat[2]/
45,XX,der(13;13)(q10;q10)mat[48]
 n.a.
 {97} 1 case
13-
WmU-imb/
2-1 to 2-4
 n.a.
 prenatal
 AF
 NIPT sugest +13
 n.a.
 {1604} cases 2, 4-6 in App. 2

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
13-
WmU-imb/
mos/
1-1 		- - - - - -