ChromosOmics - Database

                                                     - CHROMOSOME 21 -                                                    
- paternal UPD -

UPD MATERNAL
 CHR . 21

UPD unclear if maternal or paternal
 CHR . 21
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


pat UPD-cases without clinical findings + normal karyotype

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
21-
OpU-N/
1-1

female
32y
PBL
46,XX
repeated trisomy 21 (in family); father has same UPD 21
{79}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
21-
OpU-N/
mos/
1-1
- - - - - -


pat UPD-cases without clinical findings + balanced karyotype

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
21-
OpU-
bal/
1-1

male
adult
PBL
45,XY,der(21;21)(q10;q10)
normal male ascertained due to offspring with Down syndrome
{109}
21-
OpU-
bal/
1-2

female
postnatal
PBL
45,XX,der(21;21)(q10;q10)
none
{304} case 6


pat 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
21-
OpU-sSMC/
1-1

- - - - - - - -


segmental pat UPD-cases without clinical findings

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
21-
OpU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
21-
OpU-seg/
/
mos/

1-1
- - - - - -


pat UPD-cases without clinical findings + other imbalances

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
21-
OpU-imb/

1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
21-
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
grade of mosaicism

clinical symptoms
reference
21-
WpU-N/
1-1

female
8th week of gestation
placenta
46,XX
missed abortion
{183} case 2
21-
WpU-N/
2-1

n.a. n.a.
n.a.
n.a.
n.a.
{982}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
21-
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
grade of mosaicism

clinical symptoms
reference
21-
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
grade of mosaicism

final FISH result of the sSMC
FISH
methods

clinical symptoms
reference
21-
WpU-sSMC/
1-1

- - - - - - - -


segmental pat UPD-cases with or unclear clinical correlation

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
21-
WpU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
21-
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
grade of mosaicism

clinical symptoms
reference
21-
WpU-imb/
1-1
female
newborn
PBL
fibroblasts
46,XX in PBL after ~1year
initially and in fibroblasts: 46,XX,r(21)/46,XX,-21
growth failure, facial DYS, muscular hypertonia, and severe psychomotor retardation
{81} case 1
{290} case OB01

21-
WpU-imb/
2-1
male
10m
PBL
45,XX,-21,dup(21)(q22.11q22.3)
short stature, DYS, mild motor delay
{1106}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
21-
WpU-imb/
mos/

1-1
- - - - - -