ChromosOmics - Database

                                                     - CHROMOSOME 3 -                                                    
- maternal  UPD -

UPD unclear if maternal or paternal
 CHR . 3

UPD PATERNAL
 CHR . 3
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 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



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
03-
OmU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
03-
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
03-
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
03-
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
03-
OmU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
03-
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
03-
OmU-imb/

1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
03-
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
03-
WmU-
N/
1-1
male
newborn
PBL
n.a.
Epidermolysis bulbosa (gene COL7A1 in 3p21.31)
{167}
03-
WmU-
N/
1-2
n.a.
newborn
PBL
n.a.
Epidermolysis bulbosa (gene COL7A1 in 3p21.31)
{504}
03-
WmU-
N/
2-1
female
5 weeks
PBL
n.a.
Fanconi-Bickel syndrome (gene GLUT2 in 3q26.2
{213}
03-
WmU-
N/
3-1
female
newborn
PBL
46,XX
Congenital disorder of glycosylation type Id (gene ALG3 in 3q27.1)
{321}
03-
WmU-N/
4-1

n.a.
postnatal/
child

PBL
n.a.
Autosomal recessive GM1 gangliosidosis (gene GLB1 in 3p22.3)
{795}
03-
WmU-N/
5-1

n.a.
n.a.
n.a.
n.a.
n.a.
{982}
03-
WmU-N/
6-1

n.a.
postnatal/
child

PBL
n.a.
autosomal recessive woolly hair/hypotrichosis (gene LIPH in 3q27.2)
{1246}
03-
WmU-N/
7-1

n.a.
postnatal/
child

PBL
n.a.
Chanarin-Dorfman syndrome
(gene
ABHD5 in 3p21.33)
{1335}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
03-
WmU-N/
mos/
1-1

female
4m
PBL
n.a.
mosaic UPD in 75% of the cells

moderate ID, epilepsy and autistic behaviour; Rett.-syndrome like regression - possible responsible SRGAP3-gene in 3p25.3
{919} case 7


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
03-
WmU-bal/

1-1
female
postnatal
PBL
46,XX,inv(3)(p12q24)x2 mat
MR
{476}


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
03-
WmU-sSMC/
1-1
03-
U-8
female/
prenatal
CH, AF
47,XX,+mar[100%]
min(3)(:p12.2q10:)*
BAC probes
see below
{3}
twin pregnancy; in chorion (short term culture) in twin 2 a trisomy 3 (100%) was detected; in long term culture in 100% of cells had sSMC; twin 2 significantly shorter than twin 1; sSMC also found in amnion cells; selective fetocide was done, however, after 3 weeks death delivery of both twins.


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
03-
WmU-
seg/
1-1
n.a.
postnatal PBL
n.a.
---
exact localization not reported - only size of 17 MB
Global DD, normal development, non-dysmorphic, gene n.d.
{652} case 15
03-
WmU-
seg/
2-1
n.a.
postnatal
PBL
n.a.
---
exact localization or size not reported
Patella aplasia, radioulnar synostosis, brachydactyly
{1213} case V3

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
03-
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
03-
WmU-imb/
1-1

n.a.
24y
PBL, buccal mucosa
at 4 y: 46,XN,der(3)t(3;4)(p22;q35)[40%]/46,XN[60%]
at 24y der(3) only in 5%
---
3pter to 3p22.1;
  43.13 Mb
[hg19]
DD, obesity, hearing loss
{1363} case 6

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
03-
WmU-imb/
mos/
1-1

n.a.
- - - - -