ChromosOmics - Database

                                                     - CHROMOSOME 14 -                                                    
- paternal UPD -

UPD MATERNAL
 CHR . 14

UPD unclear if maternal or paternal
 CHR . 14
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 karotype

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
14-
OpU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
14-
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
14-
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
14-
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
14-
OpU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
14-
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
14-
OpU-imb/

1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
14-
OpU-imb/
mos/

1-1

- - - - - -


pat UPD-cases with or unclear clinical correlation + normal karyotype

Kagami- syndrome (KS) meanwhile also identified to be due to epimutations and no UPD(14)pat; e.g. {851}; Review on KS see {916}.

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
14-
WpU-N/
1-1

male
newborn
PBL
46,XY
pat UPD 14 syndrome Kagami syndrome = (KOS14)
{137}
14-
WpU-
N/
1-2

n.a.
postnatal
PBL
46,XN
KOS14
{163} case 22
14-
WpU-
N/
1-3

male
newborn
PBL
46,XY
KOS14 {184}
14-
WpU-
N/
1-4
to 1-5
female and male
newborn
PBL
46,XX and n.a.
KOS14 {226; 227} cases 1 and 2; {664} cases 6 and 16 {695, 699; 703}
14-
WpU-
N/
1-6
to 1-12
3 female and 4 male
newborn
PBL
46,XY or 46,XX
KOS14 {227} cases 4-10; {664} cases 1, 2, 4, 7, 8, 9, 15
14-
WpU-N/
1-13

n.a.
prenatal
AF
n.a. KS
{1192} 1 case
14-
WpU-N/
1-14

female
postnatal
PBL
n.a.
KOS14 {721}
14-
WpU-N/
1-15

male
newborn
PBL
46,XY
KOS14 {280}
14-
WpU-N/
1-16

female
abortion
tissue
46,XX
KOS14; spontaneous abortion
{358} case 35
14-
WpU-N/
1-17

male
postnatal
PBL
n.a.
KOS14 {436} case 3
14-
WpU-N/
1-18
to 1-20
female and male
pre- and postnatal
CH, AF, PBL
46,XX/ 46,XY
KOS14 {436} cases 1,2,4
{437, 438, 695, 1176}

14-
WpU-N/
1-21

female
postnatal
PBL
46,XX
KOS14 {548} case 1
14-
WpU-N/
1-22
to 1-23
n.a.
postnatal
AF/ archival tissues
46,XN
KOS14 {569} 2 cases
14-
WpU-N/
1-24

male
prenatal
AF
46,XY
KOS14 {605}
14-
WpU-N/
1-25

n.a.
postnatal
PBL
n.a.
KOS14 {617} 7th UPD case not mentioned in {438} and {226}
14-
WpU-N/
1-26
to 1-38
n.a.
postnatal
PBL
n.a.
KOS14 {624} 13 cases
14-
WpU-N/
1-39
to 1-45
n.a.
postnatal
PBL
n.a.
KOS14 {664} 7 cases
14-
WpU-N/
1-46

n.a.
newborn
PBL
n.a.
KOS14 {680}
14-
WpU-N/
1-47

n.a.
postnatal
PBL
n.a.
KOS14 {719}
14-
WpU-N/
1-48

male
prenatal
AF/PBL
n.a.
KOS14 {762}
14-
WpU-N/
1-49

female
prenatal
AF
46,XX
KOS14 {799}
14-
WpU-N/
1-50

female
postnatal
PBL
n.a.
KOS14 {820}
14-
WpU-N/
1-51

n.a.
postnatal
PBL
46
KOS14 {877,1176} 3 new cases
14-
WpU-N/
1-52

n.a.
prenatal
AF
n.a.
KOS14 {952}
14-
WpU-N/
1-53

n.a.
prenatal
fetus

n.a.
KOS14
 iUPD 14q11.2q32.33
most likle rest of #14 hUPD

{977}
14-
WpU-N/
1-54

n.a.
newborn
PBL
n.a.
KOS14 {1033} case 2
14-
WpU-N/
1-55

female
prenatal
AF
46,XX KOS14 {1134}
14-
WpU-N/
3-1

male
~2y
PBL
46,XY
KOS14 and hypospadias
maybe due to gene
ESR2 in 14q23.2
{957}
14-
WpU-N/
4-1 to 4-2

n.a.
n.a.
n.a.
n.a.
n.a.
{982}
14-
WpU-
N/
4-3

male
newborn
n.a.
n.a.
KOS14 acc. to clinical signs
{984}


mosaic cases
Case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference

14-
WpU-N/
mos/
1-1

female
6y
PBL
46,XX
mosaic iUPD - as based on aCGH result (20% of PBL)

(KOS14) microcephaly, epileptic encephalopathy, cerebral atrophy
{896} case 11
14-
WpU-N/
mos/
1-2

female
newborn
PBL
46,XX
mosaic iUPD - as based on aCGH result
72% in PBL; 66% in buccal cells

KOS14 {1053}
14-
WpU-N/
mos/
1-3

male
prenatal
AF
46,XY
mosaic iUPD 80%  - as based on aCGH result

KOS14 {1350}


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
14-
WpU-bal/
1-1
female
postnatal
PBL
45,XX,der(13;14)(q10;q10)
KOS14 {141}
14-
WpU-bal/
1-2
female
prenatal
AF
45,XX,der(13;14)(q10;q10)
pat
KOS14 {1199}
14-
WpU-bal/
1-3
female
postnatal
PBL
45,XX,der(13;14)(q10;q10)pat
KOS14 {430}
14-
WpU-bal/
1-4
female
postnatal
PBL
45,XX,der(13;14)(q10;q10)
mother with 46,XX,t(1;14)(q32;q32)
KOS14 {370}
14-
WpU-bal/
1-5
male
postnatal
PBL
45,XY,der(13;14)(q10;q10)
pat
KOS14 {1194}
14-
WpU-bal/
2-1
male
postnatal
PBL
45,XY,der(14;14)(q10;q10)dn
KOS14 {98} 1 case
{99}

14-
WpU-bal/
2-2
female
prenatal
AF
45,XX,der(14;14)(q10;q10)dn
KOS14 {259, 1374}
14-
WpU-bal/
2-3
female
prenatal
AF
45,XX,inv(9)(p11q13),der(14;14)(q10;q10)dn
KOS14 {340}


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
14-
WpU-sSMC/
1-1
14-W-
q11.1/
2-1
female/
1y
PBL
47,XX,+mar[44]/
46,XX[6]
inv dup(14)(q11)
centromeric probes, subcenM
KOS14 {61, 699}


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
14-
WpU-seg/
q12/

1-1
male
prenatal
AF
46,XY
---
14q12 to 14qter
KOS14 {142; 405}
14
WpU-seg/
q22.3/

1-1
female
newborn
PBL
46,XX
---
14q22.3 to 14qter
KOS14 {226; 227} case 3, {664} case 17
14
WpU-seg/
q24.3/

1-1
n.a.
prenatal
AF
n.a.
---
14q24.3 to 14qter;
  75.13 Mb
[hg19]
mild KOS
{1363} case 11
14-
WpU-seg/
q32/

1-1
female
newborn
PBL
46,XX
---
14q32 to 14q32.33
KOS14 {568}
14-
WpU-seg/
q32.2/

1-1
male
4y
PBL
46,XX
---
14q32.2 to 14q32.33
KOS14 {686}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
14-
WpU-seg/
q12/
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
14-
WpU-imb/
1-1
female
postnatal
PBL
46,XX[75-80%]/
47,XX,+14[
20-25%]
KOS14 {548} case 2
14-
WpU-imb/
2-1

female
prenatal
AF
45,XX,der(13;14)(q10;q10)mat[48]/
46,XX,+13,der(13;14)(q10;q10)mat[2]

KOS14 {97}
14-
WpU-imb/
3-1
n.a.
n.a.
PBL
n.a.
---
duplication and triplication in 14q32.12 and UPD

n.a.
{908}
case BAB3924


mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
14-
WpU-imb/
mos/

1-1
- - - - - -