ChromosOmics - Database

                                                     - CHROMOSOME 4 -                                                    
- maternal  UPD -

UPD unclear if maternal or paternal
 CHR . 4

UPD PATERNAL
 CHR . 4
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 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
04-
OmU-N/
1-1
female
prenatal
AF
46,XX
no clinical signs at 1y; detected due AMA
{914}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
04-
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
04-
OmU-bal/
1-1
female
adult
PBL
46,XX,i(4)(p10),i(4)(q10)
normal woman with repeated abortions
{101}


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
04-
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
04-
OmU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
04-
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
04-
OmU-imb/
1-1
male
prenatal
CH, amnion
CH: 47,XY,+4
Amnion: 46,XY

normal at birth and at 4 years
{0}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
04-
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
04-
WmU-N/
1-1
female
adult
PBL
n.a.
detected during a screening for mood disorders or schizophrenia. Here major depressive disorder; gene n.d.
{265}
04-
WmU-N/
1-2

male
10y
PBL
n.a.
mild MR, no DYS, slight speech delay; gene n.d., even though iUPD
{891}
04-
WmU-N/
2-1
female

>1y
PBL
n.a.
Congenital afibrinogenaemia (gene FGA in 4q31.3)
{335}
04-
WmU-N/
3-1
male
~1y
PBL
n.a.
Limb-girdle muscular dystrophies (gene SGCB in 4q12)
{614}
04-
WmU-N/
4-1
male
neonatal
PBL
n.a.
Autosomal dominant polycystic kidney disease (gene PKD2 in 4q22.1)
{650 = 893}
04-
WmU-N/
5-1

male
11y
PBL
46,XY
Severe hypodysfibrinogenaemia (gene FGB in 4q31.3)
{693}
04-
WmU-N/
6-1

male
2m
PBL
n.a.
Abetalipoproteinemia (gene MTTP in 4q23)
{892} case 2
04-
WmU-N/
7-1

n.a.
n.a.
n.a.
n.a.
n.a.
{982}
04-
WmU-N/
8-1 to 8-2
n.a.
postnatal
PBL
n.a.
details n.a.
found in a cohort of children with inborn heart disease heterodisomy

{1066} 2 cases
04-
WmU-N/
9-1

female
9m
PBL
n.a.
LRBA-deficiency (gene LRBA in 4q31.3)
unclear if segmental iUPD or iUPD/hUPD
{1115}
04-
WmU-N/
10-1

male
20y
PBL
n.a.
Normosmic congenital hypogonadotropic hypogonadim (gene GNRHR  in 4q13.2)
{1129}
04-
WmU-N/
11-1

male
newborn
PBL
n.a.
autosomal recessive Mucopolysaccharidosis type I (MPS I)  = Hurler syndrome (gene IDUA in 4p16.3) {1260}
04-
WmU-N/
12-1

female
postnatal
PBL
n.a.
terminal iUPDs

Wolfram syndrome (gene WFS1  in 4p16.1) {1330}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
04-
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
04-
WmU-

bal/
1-1
female
4y8m
PBL
46,XX,inv(4)(pl5.2ql2)mat, inv(4)(pl5.2ql2)mat
developmental and language delay
{407}


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
04-
WmU-sSMC/
1-1
04-
U-1
male/
1m
PBL
48,XY,+21,+mar[28]/
47,XY,+21[7]
min(4)(:p12q11:)
cenM
subcenM
partial maternal iso-UPD 4p16:

typical Down-syndrome
{4} case 10
{5}


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
04-
WmU-
seg/
pter/

1-1
see 04-WmU-sSMC/1-1
04-
WmU-
seg/
pter/

2-1
female
postnatal
PBL
n.a.
---
4pter to 4p15.1
Ellis-van Creveld syndrome (gene EVC in 4p16.2)
{354}
04-
WmU-
seg/
pter/

3-1
n.a.
postnatal
PBL
n.a.
---
4pter to 4p10
Wolfram syndrome (gene CISD2 in 4q24)
{410}
04-
WmU-
seg/
pter/

4-1
male
1y
PBL
n.a.
---
4pter to 4p15.3
autosomal recessive lysosomal disorder - Hurler disease (gene IDUA in 4p16.3)
{1166} patient A
04-
WmU-
seg/
q11/

1-1
female
29y
PBL
46,XX
---
4q11~21 to 4qter
Abetalipoproteinemia (gene MTTP in 4q23)
{391}
04-
WmU-
seg/
q26/

1-1
female
8m
PBL
n.a.
---
4q26 to 4q35.2
  Methylmalonic acidemia (gene MMAA in 4q31.1‐q31.2)
{1201}
04-
WmU-
seg/
q31/

1-1
female
1y
PBL
n.a.
---
4q31-32
bilateral cleft lip and palate, and no other noticeable abnormalities (gene PDGF-C in 4q32.1)
{715}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
04-
WmU-
seg/
/
mos/

2-1
- - - - - -


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
04-
WmU-imb/

1-1
female
prenatal
chorion AF
47,XX,+4/46,XX in chorion
46,XX in AF
IUGR; fetal death at 30th week; no external malformations
{241} case CPM4-1, {462}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
04-
WmU-imb/
mos/

1-1
- - - - - -