ChromosOmics - Database


Icon by Leon Liehr             

                                                     - CHROMOSOME 13 -                                                    
- paternal UPD -

UPD MATERNAL
 CHR . 13
 		UPD unclear if maternal or 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 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


pat UPD-cases without clinical findings + normal karyotype

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

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
13-
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
13-
OpU-bal/
1-1
 female
 prenatal
 PBL
 45,XX,der(13;13)(q10;q10)dn
 normal child born
 {96} case 1, {97}
13-
OpU-bal/
1-2
 female
 adult
 PBL
 45,XX,der(13;13)(p11.2;p11.2)pat
 normal female
 {327}
13-
OpU-bal/
1-3
 male
 prenatal
 AF, PBL
 45,XY,der(13;13)(q10;q10)de novo
 normal male
 {416}


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
13-
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
13-
OpU-seg/
/
1-1
 - - - - - -

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
13-
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
13-
OpU-imb/
1-1
 female
 prenatal
 AF, CH
 CH: 46,XX,+13,der(13;13)(q10;q10)
AF: 45,XX,der(13;13)(q10;q10)
 none, apart from length <10th centile
 {332}

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
13-
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
13-
WpU-N/
1-1
 male
 4y
 PBL
 n.a.
 autosomal dominant 3A deafness (gene GJB2 in 13q12.11)
 {390}
13-
WpU-N/
2-1
 female
 35y
 PBL
 n.a.
 Spastic ataxia, Charlevoix-Saguenay type (gene SACS in 13q12.12)
 {557}
{1595} PN7
13-
WpU-N/
3-1
 n.a.
 n.a.
 n.a.
 n.a.
 n.a.
 {982}

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
13-
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
13-
WpU-bal/
1-1
 female
 postnatal
 PBL
 45,XX,der(13;13)(q10;q10)
 Childhood-onset schizophrenia, ADHD, and motor tic disorder
 {658}


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
13-
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
13-
WpU-seg/
q14.2/
1-1
 male
 n.a.
 PBL
 n.a.
---
13q14.2 to 13q34
 Wilsons disease (gene ATP7B in 13q14.3)
 {736} 1 case
13-
WpU-seg/
q14.3/
1-1
 male
 6.5y
 PBL
 45,XY,der(13;15)(q10;q10)
---
besides pat UPD 15 also pat UPD 13q14.3
 Angelman syndrome not related to UPD(13)pat
 {357}

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


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

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
13-
WpU-imb/
1-1
 n.a.
 prenatal
 AF
 46,+13,der(13;13)(q10;q10)pat[2]
 n.a.
 {852}

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