ChromosOmics - Database

                                                     - CHROMOSOME 21 -                                                    
- maternal  UPD -

UPD unclear if maternal or paternal
 CHR . 21

UPD 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


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
21-
OmU-N/
1-1

male
postnatal
PBL
n.a.
none - studied due to paternity testing
{255}
21-
OmU-N/
1-2 to 1-3

n.a.
prenatal
n.a. 46
abnormal first trimester test
(no follow-up data)

{755} 2 cases

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

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

male
postnatal
PBL
45,XY,der(21;21)(q10;q10)mat
none - studied due to repeated abortions in mother
{295}
21-
OmU-bal/
1-2

male
prenatal
AF
45,XY,der(21;21)(q10;q10)dn
none - detected during prenatal screening; normal child born; normal at 1 y
{311}


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
21-
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
21-
OmU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
21-
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
21-
OmU-imb/

1-1

female
prenatal AF; placenta, PBL
47,XX,+21[6]/
46,XX[25]
in placenta ~50% +21; in PBL ~3%
none after birth
{1263}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
21-
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
21-
WmU-N/
1-1
n.a.
early pregnancy
fetal tissue
46,XN
early embryonic failure
{207}
21-
WmU-N/
1-2

n.a.
prenatal
AF
46,XN
abnormal sonography
{899} 1 case
21-
WmU-N/
2-1
male
15 m
PBL
46,XY
normal at birth; DD from 15 m of age; iso UPD 21q21.1 to 21q22.12, no gene identified
{547}
21-
WmU-N/
3-1
n.a.
5y
PBL
n.a.
DD; congenital abnormalities of the nervous system, no gene identified
{619} case 35
21-
WmU-N/
4-1

female
postnatal
PBL
n.a.
popliteal pterygium syndrome (gene RIPK4 in 21q22.3)
{876} case PPS2

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
21-
WmU-N/
mos/

1-1
-
-
-
-
-
-


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
21-
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
21-
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
21-
WmU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
21-
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
21-
WmU-imb/
1-1
female
newborn
PBL
fibroblasts
46,XX in PBL after ~1year
initially and in fibroblasts: 46,XX,del(21)/46,XX,-21
growth failure, facial dysmorphism, muscular hypertonia, and severe psychomotor retardation
{81} case 2
{290} case MP04

21-
WmU-imb/
2-1
n.a.
newborn
PBL
47,+21/46
Down syndrome
{120}
21-
WmU-imb/
2-2

female
prenatal
AF, CH
46,XX
in placenta 47,XX,+21

no abnormalities; nonetheless parents decided for TOP
{732}
21-
WmU-imb/
3-1
n.a.
early pregnancy
fetal tissue
48,+7,+9/46
early embryonic failure
{207}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
21-
WmU-imb/
mos/

1-1
female
  23y
PBL
see below
severe MR and ID
{1291} case FIN10-3
no karyotype available; In addition to the DYRK1A deletion (overall 2.7 Mb) mosaicism, complex mosaicism of three different homozygosity regions, 21q22.11q22.3 (78%), 21q21.3q22.11 (30%), and 21q21.1q21.3 (15%), was detected resulting from maternal uniparental disomy (UPD)