ChromosOmics - Database

                                                     - 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
grade of mosaicism

clinical symptoms
reference
13-
OmU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

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
grade of mosaicism

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
grade of mosaicism

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
grade of mosaicism

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
grade of mosaicism

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
grade of mosaicism

clinical symptoms
reference
13-
OmU-imb/

1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

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
grade of mosaicism

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


mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

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
grade of mosaicism

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
grade of mosaicism

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
grade of mosaicism

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/
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
grade of mosaicism

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
grade of mosaicism

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

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
13-
WmU-imb/
mos/
1-1
- - - - - -