ChromosOmics - Database

                                                     - CHROMOSOME 6 -                                                    
- paternal UPD -



UPD MATERNAL
 CHR . 6

UPD unclear if maternal or 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



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
06-
OpU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
06-
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
06-
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
06-
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
06-
OpU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
06-
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
06-
OpU-imb/

1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
06-
OpU-imb/
mos/

1-1

- - - - - -


pat UPD-cases with or unclear clinical correlation + normal karyotype
for review on TNDM see {1096}

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
06-
WpU-N/
1-1
female
newborn
PBL
46,XX
transient neonatal diabetes mellitus = TNDM
{111}
06-
WpU-N/
1-2
female
newborn
PBL
n.a.
TNDM
{130} patient A
{510} 1case

06-
WpU-N/
1-3
male
4m
PBL
46,XY
TNDM
{136} patient 1
06-
WpU-N/
1-4
female
4m
PBL; fibroblasts
46,XX
TNDM
{148, 153}
06-
WpU-N/
1-5 to 1-6
n.a.
newborn
PBL
n.a.
TNDM
{152, 256, 257} 2 cases
06-
WpU-N/
1-7
female
newborn
PBL
46,XX
TNDM
{155}
06-
WpU-N/
1-8
female
9y
PBL
46,XX
TNDM, normal at 6 y
{156}
06-
WpU-N/
1-9
female
newborn
PBL
46,XX
TNDM
{187}
06-
WpU-N/
1-10
n.a.
newborn
PBL
n.a.
TNDM
{188}
06-
WpU-N/
1-11
n.a.
newborn
PBL
n.a.
TNDM
{210} family 3, {211} family A
06-
WpU-N/
1-12
male
newborn
PBL
(n.a.)
TNDM
{266}
06-
WpU-N/
1-13
female
newborn
PBL
n.a.
TNDM
{267}
06-
WpU-N/
1-14
n.a.
newborn
PBL
n.a.
TNDM
{6} case B
06-
WpU-N/
1-15
n.a.
childhood
PBL
n.a.
TNDM; normal child; tested due to paternity testing
{377}
06-
WpU-N/
1-16
male
newborn
PBL
n.a.
TNDM
{380}
06-
WpU-N/
1-17
female
newborn
PBL
46,XX
TNDM
{465}
06-
WpU-N/
1-18
male
neweborn
PBL
n.a.
TNDM, relapse at 15 y
{496}
06-
WpU-N/
1-19
n.a.
newborn
PBL
n.a.
TNDM
{510} 1 case
06-
WpU-N/
1-20
n.a.
6m
PBL
n.a.
TNDM(mixed h-i-UPD 6)
{619} case 17
06-
WpU-N/
1-21
n.a.
3y 3 m
PBL
n.a.
TNDM add. features of unclear genesis (mixed h-i-UPD 6)
{619} case 18
06-
WpU-N/
1-22
male
newborn
PBL
n.a.
TNDM
{643} 1 case
06-
WpU-N/
1-23
n.a.
newborn
PBL
n.a.
TNDM
{652} case 16
06-
WpU-N/
1-24
n.a.
newborn
PBL
n.a.
TNDM
{655} 1 case
06-
WpU-N/
1-25 to 1-26

n.a.
newborn
PBL
n.a.
TNDM
{689} 2 cases

06-WpU-N/
1-27 to 1-93

male and female
newborn
PBL
n.a.
TNDM
{728} 66 cases
06-
WpU-N/
1-94 to 1-96

n.a.
n.a.
PBL
n.a.
TNDM
{913} patients 1-3
06-
WpU-N/
1-97 to 1-98

n.a.
n.a.
PBL
n.a.
TNDM
{947} cases 75, 97
06-
WpU-N/
1-99

n.a.
newborn
PBL
n.a.
TNDM
{971}
06-
WpU-N/
1-100

female
newborn
PBL
n.a.
TNDM; at 6y still diabetic - i.e. PNDM
{1037}
06-
WpU-N/
1-101 to 1-102

male
prenatal
AF
46,XY TNDM
{1099} 2 cases
06-
WpU-N/
1-103

n.a.
prenatal
PBL
n.a. TNDM
{1190} 1 case
06-
WpU-N/
2-1
n.a.
newborn
PBL
n.a.
TNDM and cholestasis and paucity of interlobular bile ducts (no gene identified)
{233}
06-
WpU-N/
3-1
female
9y
PBL 46,XX
TNDM and systemic Lupus erythematosus (gene C4A in 6p21.33)
{378, 379}
06-
WpU-N/
4-1
male
newborn
PBL
46,XY
TNDM and complex syndrome including complete IFN-gamma receptor 1 deficiency (gene IFNGR1 in 6q23.3)
{464}
06-
WpU-N/
5-1
n.a.
newborn
PBL
n.a.
TNDM and 3M syndrome, low birth weight (gene CUL7 in 6p21.1)
{494} case 30
06-
WpU-N/
6-1
n.a.
newborn
PBL
n.a.
see below
{619} case 5
TNDM and oligohydraminos, hydrops fetalis with echocardiographic findings of the pulmonary stenosis and hypoplastic right heart. The newborn had whole body edema (iso-UPD 6 -no gene identified)
06-
WpU-N/
7-1 to 7-3

n.a.
n.a.
n.a.
n.a.
n.a.
{982}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
06-
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
06-
WpU-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
06-
WpU-sSMC/
1-1
06-
W-p21.2/
1-1
female/
1m
PBL
cell line at ECACC DD1261

47,XX,+r[37]/
46,XX[13]
r(6)(::p21.2q10::)*
all centromeric probes; wcp 6; midi
see below
{6} case A, {7}, {8} case 5
IUGR in week 35; Birth by cesarean section in week 38; Birth weight 1,8kg, Apgar 6/8/-; protuberant tongue; slightly prominent clitoris and anteriorly placed anus, small umbilical hernia; TNDM; smiling at 6m, sitting at 7.5m, standing with support 1y; At 2y8m epicantic folds, thicker upper lip and prominent cheeks


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
06-
WpU-seg/
pter/

1-1
female
postnatal
PBL
n.a.
---
6pter to 6q10
normal female with hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency (gene CYP21A2 in 6p21.33)
{249}
06-
WpU-seg/
q22.2/
1-1

female
postnatal
PBL
n.a.
---
6q22.2 to 6qter

TNDM and
merosin-deficient congenital muscular dystrophy (gene
LAMA2 in 6q22.33) ; twin sister normal
{827}
06-
WpU-seg/
q23.2/

1-1
female twins
newborn
PBL
46,XX (monozygote)
---
6q23.2 to 6qter
TNDM
{583}
06-
WpU-seg/
q23.3/

1-1
male
newborn
PBL
46,XY
---
6q23.3 to 6qter
TNDM
{147}
06-
WpU-seg/
q24/

1-1
n.a.
postnatal
PBL
n.a.
---
6q24 to ?6q24
TNDM
{492}
06-
WpU-seg/
q24/
1-2

male
<1y
PBL
n.a.
---
6q24 to ?6q24

TNDM
{1025}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
06-
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
06-
WpU-imb/
1-1
female
newborn
PBL
47,XXX
TNDM
{453}
06-
WpU-imb/
2-1
male
newborn
PBL
47,XXY
TNDM
{463}
06-
WpU-imb/
3-1
n.a.
newborn
AF
47,+6/46
TNDM (iso-UPD 6)
{619} case 6
06-
WpU-imb/
3-2
female
prenatal
AF, placenta, PBL
AF: 47,XX,+6[3]/46,XX[27]
placenta: 47,XX,+6
PBL: 46,XX
TNDM
{631} case 6

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
06-
WpU-imb/
mos/

1-1
- - - - - -