ChromosOmics - Database

                                                     - CHROMOSOME 16 -                                                    
- paternal UPD -

UPD MATERNAL
 CHR . 16

UPD unclear if maternal or paternal
 CHR . 16
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


pat UPD-cases without clinical findings + normal karyotype

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
16-
OpU-N/

1-1
male prenatal
AF 46,XY none {1351}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
16-
OpU-N/

mos/
1-1
- - - - - -


pat UPD-cases without clinical findings + balanced karyotype

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
16-
OpU-bal/
1-1

- - - - - -


pat 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
16-
OpU-sSMC/
1-1

- - - - - - - -


segmental pat UPD-cases without clinical findings

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
16-
OpU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
16-
OpU-seg/
/
mos/

1-1
- - - - - -


pat UPD-cases without clinical findings + other imbalances

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
16-
OpU-imb/

1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
16-
OpU-imb/
mos/

1-1

- - - - - -


pat UPD-cases with or unclear clinical correlation + normal karyotype
for thoughts about UPD(16) see Ref 993 and 1144

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
16-
WpU-N/
1-1 to 1-3
n.a.
newborn
PBL
n.a.
pulmonary surfactant metabolism dysfunction 3 (gene ABCA3 in 16p13.3)
{490} patients 1 to 3
16-
WpU-N/
2-1 to 2-2

male and female
12 and 18y
PBL
n.a.
Hereditary spastic paraplegias (gene FA2H in 16q23.1)
{884; 956} 2 cases
16-
WpU-N/
3-1

female
9y
PBL
n.a.
Fanconi anemia
(gene
FANCA in 16q24.3)
{937} case 1
16-
WpU-N/
4-1

male
postnatal
PBL n.a.
spastic paraplegia type 35 - SPG35 (gene FA2H in 16q23.1)
{1017}
16-
WpU-N/
5-1

female
postnatal
PBL n.a.
congenital disorders of glycosylation (CDG)  {1240}
16-
WpU-N/
6-1

female
prenatal
AF 46,XX
congenital disorder of glycosylation (gene ALG1 in 16p13.3) {1277}
16-
WpU-N/
7-1

female
postnatal
PBL
n.a.
Giant axonal neuropathy (gene GAN1 in 16q23.2)
{1367} 1 case

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
16-
WpU-N/
mos/
1-1

- - - - - -


pat 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
16-
WmU-bal/
1-1

-
-
-
-
-
-


pat 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
16-
WpU-sSMC/
1-1

- - - - - - - -


segmental pat UPD-cases with or unclear clinical correlation

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
6-
WpU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
6-
WpU-seg/
/
mos/

1-1
- - - - - -


pat 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
16-
WpU-imb/
1-1
n.a.
prenatal
n.a.
47,+16/46
hydrops fetalis
{399}
16-
WpU-imb/
1-2
female
prenatal
AF
47,XX,+16/
46,XX

IUGR; mild facial abnormities, VSD, ASD
{93}
16-
WpU-imb/
1-3
female
prenatal
AF, PBL
47,XX,+16/46,XX
IUGR; bilateral pes calcaneus, normal development at 13m
{236}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
16-
WpU-imb/
mos/
1-1

- - - - - -