ChromosOmics - Database

                                                     - CHROMOSOME 5 -                                                    
- maternal  UPD -

UPD unclear if maternal or paternal
 CHR . 5

UPD PATERNAL
 CHR . 5
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
05-
OmU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
05-
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
05-
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
05-
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
05-
OmU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
05-
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
05-
OmU-imb/

1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
05-
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
05-
WmU-N/
1-1
female
3y
PBL
n.a.
Netherton syndrome (gene SPINK5 in 5q32)
{444} patient 2
05-
WmU-N/
1-2

female
10y
PBL
n.a.
Netherton syndrome (gene SPINK5 in 5q32)
{849}
05-
WmU-N/
2-1

female
12y
PBL
46,XX
Stüve-Wiedemann syndrome (gene LIFR in 5p13.1)
{850}
05-
WmU-N/
3-1

male
4y
PBL
n.a.
Congenital sodium diarrhea = CSD (gene SLC9A3 in 5p15.33)
{922}
05-
WmU-N/
4-1

n.a.
n.a.
n.a.
n.a.
n.a.
{982}
05-
WmU-N/
5-1

female
newborn
PBL
n.a.
recurrent diarrhea (gene PCSK1  in 5q15) {1361}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
05-
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
05-
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
05-
WmU-sSMC/
1-1
05-O-
p13.1/
1-2

female/
prenatal
AF
47,XX,+mar[7]/46,XX[43]
min(5)(:p13.1→q11.1:)
cenM;
subcenM

no sonographic signs; AMA,  child born; no abnormalities reported; slight hip dislocation {0} provided by Dr. Schulze, Hannover, Germany


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
05-
WmU-
seg/
pter/

1-1
n.a.
51y
PBL
n.a.
---
5pter to 5p15.1;
  16.44 Mb
[hg19]
MR, heart problems
{1363} case 7

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
05-
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
05-
WmU-imb/
1-1

male prenatal CVS/ PBL
47,XY,+21[98]/
48,XY,+5,+21[25]
after birth no +5 clone
Down-syndrome {1258}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
05-
WmU-imb/
mos/
1-1
-
-
-
-
-
-