ChromosOmics - Database

                                                     - CHROMOSOME 6 -                                                    
- maternal  UPD -

UPD unclear if maternal or paternal
 CHR . 6

UPD PATERNAL
 CHR . 6
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
06-
OmU-N/

1-1
female newborn
PBL
n.a.
none; paternity testing
{1078}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
06-
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
06-
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
06-
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
06-
OmU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
06-
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
06-
OmU-imb/
1-1

female
pre- and postnatal
chorion, AF
47,XX,+6 in chorion
46,XX in AF
normal acc. to parents at 3 months
{198}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
06-
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
06-
WmU-N/
1-1
female
prenatal
AF
n.a.
IUGR, catched up after birth; congenital adrenal hyperplasia (CYP21A2 gene in 6p21.33)
{338}
06-
WmU-N/
1-2
male
adult
PBL
n.a.
IUGR, catched up after birth, renal transplant patient; susceptibility to sarcoidosis type 1 (HLA-DRB1 gene in 6p21.32)
{360}
06-
WmU-N/
1-3
male
2y
PBL
46,XY
right unilateral cleft lip and palate, no growth retardation pre- or postnatal; normal developed at 2 y; hUPD(6)
{570}
06-
WmU-N/
1-4

female
prenatal
AF/ PBL
46,XX
IUGR, born as too small for age; ASD (atrial septal defect)
{0}
06-
WmU-N/
1-5

female
prenatal
AF
46,XX
FISH: 2/100: -6

IUGR
{1031} case 1; {1270} 1 case
06-
WmU-N/
1-6

male
4y
PBL
46,XY
IUGR
{1031} case 2
06-
WmU-N/
2-1
male
2y9m
PBL
n.a.
IUGR, 3M-syndrome-1 (CUL7 gene in 6p21.1)
{602}
06-
WmU-N/
3-1 and 3-2

n.a.
postnatal
PBL
n.a.
Leber congenital amaurosis 15 (TULP1 gene in 6p21.31)
{733}
06-
WmU-N/
3-3

n.a.
postnatal
PBL
n.a.
Leber congenital amaurosis 15 (TULP1 gene in 6p21.31)
{1107}
06-
WmU-N/
4-1

female
0.5 y
PBL
46,XX
extremly skewed X-chr. inactivation

Wiskott-Aldrich syndrome (WASP = WASF3 gene in 6q21)
{855}
06-
WmU-N/
5-1

male
prenatal
AF
46,XY
IUGR; ambigous genitalia, DD, failur to thrive, hemangiomas, retrognathia, camptodactyly
iUPD(6) - no gene identified

{953}
06-
WmU-N/
6-1

n.a.
n.a.
n.a.
n.a.
n.a.
{982}
06-
WmU-N/
7-1

n.a.
postnatal
PBL
n.a.
Maple syrup urine disease (gene BCKDHB in 6q14.1)
{1007} patient B
06-
WmU-N/
8-1

female
5m
PBL
n.a.
complete IRF4 deficiency (gene IRF4 in 6p25.3)
{1063}
06-
WmU-N/
9-1

n.a.
postnatal PBL
n.a.
Silver-Russel like phenotype
{1066} 1 case
06-
WmU-N/
9-2

n.a.
postnatal PBL
n.a.
Silver-Russel like phenotype
{1071} 1 case
06-
WmU-N/
10-1 to 10-2

n.a.
postnatal PBL
n.a.
no Silver-Russel like phenotype
{1066} 2 cases

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding
result
grade of
mosaicism

clinical symptoms
reference
06-
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
06-
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
06-
WmU-sSMC/
1-1
06-
CW-3
male/
32y
PBL
48,XXY,+mar[30]/
47,XXY[20]
mar(6) .ish(cep+)
all centromeric probes
Klinefelter syndrome; growth retardation at birth and at 8m of age
{288 }


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
06-
WmU-
seg/
pter/

1-1
male
newborn
PBL
46,XY
---
6pter-6p21.1; and 6q13-q22.31
Molybdenum cofactor (MoCo) deficiency of complementation group A (gene MOCS1   in 6p21.2)
{582}
06-
WmU-
seg/
pter/

2-1
female
6y
PBL
n.a.
---
6pter-6p2?4
congenital sever factor 13 deficiency  (gene F13A  in 6p25.1)
{1168}
06-
WmU-
seg/
q16.1/

1-1
female
prenatal
AF
46,XX
---
6q16.1-6qter
IUGR, child born, global DD, growth delay was catched up at age of 2 y; iUPD(6) but no gene identifed
{742}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding
result
grade of
mosaicism

clinical symptoms
reference
06-
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
06-
WmU-imb/
1-1
male
postnatal miscarriage
skin, AF
47,XY,+6/46,XY
intrauterine death in week 23
{138}
06-
WmU-imb/
1-2

female
prenatal
CH; AF
CH: 47,XX,+6[12]/46,XX[19]
AF: 46,XX

IUGR
{964} case 1
06-
WmU-imb/
1-3

female
prenatal
CH; AF
CH: 47,XX,+6[14]/46,XX[16]
AF: 46,XX

IUGR
{964} case 2
06-
WmU-imb/
1-4

female
6m
PBL
598 kb duplication in 11p15.5
SRS like phenotype due to 11p dup
{1052} case M11221

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding
result
grade of
mosaicism

clinical symptoms
reference
06-
WmU-imb/
1-1
n.a.
postnatal
PBL
n.a.
---
duplication and triplication in 6q24.1 and UPD

n.a.
{908}
case BAB3922