ChromosOmics - Database

                                                     - CHROMOSOME 17 -                                                    
- maternal  UPD -

UPD unclear if maternal or paternal
 CHR . 17

UPD PATERNAL
 CHR . 17
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
17-
OmU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
17-
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
17-
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
17-
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
17-
OmU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
17-
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
17-
OmU-imb/
1-1
female
prenatal
AF, PBL
47,XX,+17[~1%]/
46,XX[~99%]

normal girl at birth and at 2 years of age
{189} case 2

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
17-
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
17-
WmU-N/
1-1
female
2.5 y
PBL
46,XX
nephrotic cystinosis (gene CTNS in 17p13.2)
{245}
17-
WmU-N/
2-1

n.a.
postnatal
PBL
n.a.
see below
{763} case 258308
Seizures, bruxism, global DD, delayed speech and language development, delayed gross motor development, renal magnesium wasting, hypomagnesemia; gene not identified
17-
WmU-N/
3-1

n.a.
n.a.
n.a.
n.a.
n.a.
{982}
17-
WmU-N/
4-1
female
~4y
PBL
n.a.
N-acetylglutamate synthase deficiency (gene NAGS  in 17q21.31)
{1118}
17-
WmU-N/
5-1
male
16m
PBL
n.a.
autosomal recessive lysosomal disorder - Pombe disease (gene GAA in 17q25.3)
{1166} patient D

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
17-
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
17-
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
17-
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
17-
WmU-seg/
q25/

1-1
male
n.a.
PBL
46,XY
---
17q25 to 17qter
severe MR, macrostomia, thick upper lip, hypertelorism, epicanthus, aggressive behavior; no gene detected
{411} 1 case
17-
WmU-seg/
q25.1/

1-1
male
6w
PBL
n.a.
---
17q25.1 to 17qter
autosomal recessive lysosomal disorder - Pombe disease (gene GAA in 17q25.3)
{1166} patient C
17-
WmU-seg/
q25.3/

1-1
male
3y
PBL
n.a.
---
17q25.3 to 17qter
autosomal recessive lysosomal disorder - Pombe disease (gene GAA in 17q25.3)
{1166} patient B

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
17-
WmU-seg/
q21.31/
mos/

1-1
male
3m
PBL
n.a.
---
17q21.31 to 17qter
(in mosaic)
autosomal recessive lysosomal disorder - Pombe disease (gene GAA in 17q25.3)
{1166} patient E


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
17-
WU-imb/
div/

1-1
n.a
13y
PBL
46,XN,der(17)(pter→p13.2:
:p13.3→qter)
in aCGH dup:
1.97-5.75 Mb
UPD(17)seg: 17pter→17p13.3
in aCGH: 0-1.97 Mb

n.a.
{858} case 131
17-
WU-imb/
div/
2-1

n.a.
2.5y
PBL
46,XN,der(17)(pter→q25.3:
:q25.3→qter)
in aCGH dup:
75.90-78.97 Mb
UPD(17)seg: 17q25.3→17qter
in aCGH: 78.97-81.20 Mb

DD
{858} case 132

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
17-
WU-imb/
/
mos/

1-1
-
-
-
-
-
-