ChromosOmics - Database

                                                     - CHROMOSOME 12 -                                                    
- maternal  UPD -

UPD unclear if maternal or paternal
 CHR . 12

UPD PATERNAL
 CHR . 12
UPD-cases without clinical findings
+ normal karyotype
UPD-cases with or unclear clinical
correlation + normal karyotype
UPD-cases without clinical findings
+ balanced karyotype
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
12-
OmU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
12-
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
12-
OmU-bal/
1-1

- - - - - -


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
12-
OmU-sSMC/
1-1
12-O-p11/
1-1
female/
prenatal
AF
47,XX,+mar[16]/
46,XX[14]
min(12)(:p11→q11:)
cenM;
wcp and pcps

see below
{17}
{18} case 11

AMA; born after 39 weeks of gestation; birth weight 2850g, length 46cm, head circumference 34cm, all around the 50th centile. Apgar score 9 , 10, 10. No congenital anomalies orDYS were noted. At age of six weeks, clinical examination indicated normal somatic and psychomotor development.


segmental mat UPD-cases without clinical findings

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
12-
OmU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
12-
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
12-
OmU-imb/

1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
12-
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
12-
WmU-N/
1-1
female
3y
PBL
n.a.
von Willebrand disease type 1 (gene VWF in 12p13.31)
{630}
12-
WmU-N/
2-1

female
2y
PBL
n.a.
hereditary 1,25-hydroxyvitamin D-resistant rickets (gene VDR in 12q13.11)
{904}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
12-
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
12-
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
12-
WmU-
sSMC/

1-1
12-Wpks-159
female/
prenatal
AF
47,XX,+12/
47,XX,+i(12)(p10)/
46,XX
n.a.
Pallister Killian syndrome expected, TOP
{522}


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
12-
WmU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
12-
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
12-
WmU-imb/
1-1
male
prenatal
AF, 'tissue'
47,XY,+12[4]/46,XY[19]
abnormal ultrasound; multiple malformations in newborn; died after 1 hour
{107} case B
12-
WmU-imb/
1-2
female
prenatal
AF, PBL, CH
47,XX,+12[2]/46,XX[45]
biparental inheritance in AF; mat UPD in CH
AMA; sonographic abnormalities, TOP
{107} case D
12-
WmU-imb/
1-3
n.a.
prenatal
CH
47,+12/46
n.a.
{619} case 25

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
12-
WmU-imb/
mos/

1-1
- - - - - -