ChromosOmics - Database

                                                     - CHROMOSOME 14 -                                                    
- maternal  UPD -

UPD unclear if maternal or paternal
 CHR . 14

UPD 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


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
14-
OmU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
14-
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
14-
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
14-
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
14-
OmU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
14-
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
14-
OmU-imb/

1-1

- - - - - -

mosaic cases

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
14-
OmU-imb/
mos/

1-1

- - - - - -


mat UPD-cases with or unclear clinical correlation + normal karyotype
for review of Temple syndrome (TS) see {837}; N.B.: TS can also be due to a microdeletion in 14q32.2 {802}

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
14-
WmU-N/
1-1
male
3m
PBL
46,XY
short stature, mat UPD 14 syndrome = Temple syndrome (TS14)
{95} case 2
14-
WmU-N/
1-2
male
7y
PBL
46,XY
TS14
{215}
14-
WmU-N/
1-3
n.a.
postnatal
PBL
n.a.
TS14
{175}
14-
WmU-N/
1-4
n.a.
postnatal
PBL
n.a.
TS14 {177}
14-
WmU-N/
1-5
female
27y
PBL
46,XX
TS14 {193} case 28
14-
WmU-N/
1-6 to 1-8
1x male 2x female
2-4y
PBL
46,XX or 46,XY
TS14 {219; 1011, 1176} cases 2-4
14-
WmU-N/
1-9 to 1-11
1x male 2x female
~10y
PBL
46,XX or 46,XY
TS14 {19} cases 4, 5, 9
14-
WmU-N/
1-12 to 1-13
n.a.
~10y
PBL
n.a.
TS14 {19} cases 8, 10
14-
WmU-N/
1-14
female
30y
PBL
46,XX
TS14 {286} case 2
14-
WmU-N/
1-15
n.a.
postnatal
PBL
n.a.
TS14, see below
{763} case 261229
Abnormality of macular pigmentation, truncal obesity, intellectual disability, mild sensorineural hearing impairment, moderately short stature, diabetes mellitus, abnormality of the toenails
14-
WmU-N/
1-16

n.a.
postnatal
PBL
n.a.
TS14 {810}
14-
WmU-N/
1-17

female
25y
PBL
46,XX
TS14 {172}
14-
WmU-N/
1-18

male
15y
PBL
46,XY
TS14 {811}
14-
WmU-N/
1-19

n.a.
postnatal
PBL
n.a.
TS14 {812}
14-
WmU-N/
1-20

n.a.
postnatal
PBL
n.a.
TS14 {857}
14-
WmU-N/
1-21 to 1-22

n.a.
postnatal
PBL
n.a.
TS14 {872; 941} 2 cases
14-
WmU-N/
1-23

n.a.
postnatal
PBL
n.a.
TS14 {903} 1 case
14-
WmU-N/
1-24

male
4y
PBL
46,XY,inv(9)(p11q13)
TS14 {940}
14-
WmU-N/
1-25

moved to 14-WmU-imb/1-11
14-
WmU-N/
1-26

n.a.
postnatal
PBL
n.a.
TS14 {947} case 45
14-
WmU-N/
1-27

n.a.
postnatal
PBL
n.a.
TS14
 isoUPD 14 in 14q24.3-q32.33 rest most likely hUPD

{962} 1 case
14-
WmU-N/
1-28

female
2y
PBL
n.a.
TS14 resembling SRS
{988}
14-
WmU-N/
1-29 to 1-47

male and female
postnatal
PBL
n.a.
TS14 {1011, 1176, 1266, and others previously published by Kagami et al.}
14-
WmU-N/
1-48

male
1m
PBL
46,XY
TS14 {1034}
14-
WmU-N/
1-49

male
~3y
PBL
46,XY
TS14 {1056} case 7
14-
WmU-N/
1-50

male
15y
PBL
n.a.
TS14 {1133}
14-
WmU-N/
1-51

female
6y
PBL
n.a.
TS14 {1142}
14-
WmU-N/
1-52 to 1-53

n.a.
postnatal
PBL
n.a.
TS14 {1173} 2 cases
14-
WmU-N/
1-54 to 1-55

n.a.
postnatal
PBL
n.a.
TS14 {1265} 2 cases
14-
WmU-N/
1-56

male
8m
PBL
46,XY
TS14 {1284} case 1
14-
WmU-N/
1-57

n.a.
postnatal
PBL
n.a.
TS14 {1340} case P10
14-
WmU-N/
2-1

female
~1y
PBL
n.a.
TS14 and lysinuric protein intolerance (gene SLC7A7  in 14q11.2)
{1157}
14-
WmU-N/
3-1
male
postnatal
PBL
n.a.
TS14; alpha 1-antitrypsin deficiency (gene SERPINA1 in 14q32.13)
{482; 788}
14-
WmU-N/
3-2

male
postnatal
PBL
n.a.
TS14; alpha 1-antitrypsin deficiency (gene SERPINA1 in 14q32.13)
{788}
14-
WmU-N/
4-1
n.a.
3.5 y
PBL
n.a.
TS14; congenital ichthyosis 1 (gene TGM1 in 14q12)
{619} case 11
14-
WmU-N/
5-1 to 5-2

n.a.
n.a.
n.a. n.a.
n.a.
{982}
14-
WmU-N/
6-1

n.a.
postnatal
PBL
n.a.
details n.a.
found in a cohort of children with inborn heart disease heterodisomy
{1066}
14-
WmU-N/
7-1

female
3y
PBL
n.a.
Limb girdle muscular dystrophy (gene POMT2 in 14q24.3)
{1093}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
14-
WmU-N/
mos/

1-1
female
3y
PBL
46,XX
mosaic of cells with and without UPD
TS14 {219,1011, 1176} case 5


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
14-
WmU-bal/
1-1
female
6y
PBL
45,XX,der(13;14)(q10;q10)
TS14
{344}
14-
WmU-bal/
1-2
female
postnatal
PBL
45,XX,der(13;14)(q10;q10)
TS14 {143}
14-
WmU-bal/
1-3
female
postnatal
PBL
mos 45,XN,der(13;14)(q10;q10)/46,XX,der(13;14)(q10;q10)+14
TS14 {174}
14-
WmU-bal/
1-4
male
postnatal
PBL
45,XY,der(13;14)(q10;q10)mat
TS14 {179}
14-
WmU-bal/
1-5
female
4y
PBL
45,XX,der(13;14)(q10;q10)
TS14 {205}
14-
WmU-bal/
1-6
n.a.
prenatal
AF 45,der(13;14)(q10;q10)
TS14 {461}
14-
WmU-bal/
1-7
n.a.
prenatal
AF
45,der(13;14)(q10;q10)
n.a.
{323} 1 case
14-
WmU-bal/
1-8
male
postnatal
PBL
45,XYder(13;14)(q10;q10)
TS14 {6; 346}
14-
WmU-bal/
1-9
female
postnatal
PBL
45,XX,der(13;14)(q10;q10)
TS14 {426}
14-
WmU-bal/
1-10
female
postnatal
PBL 45,XX,der(13;14)(q10;q10)mat
TS14 {427}
14-
WmU-bal/
1-11
male
postnatal
PBL
45,XY,der(13;14)(q10;q10)mat
TS14 {428}
14-
WmU-bal/
1-12
male
3y
PBL
45,XY,der(13;14)(q10;q10)
TS14 {429}
14-
WmU-bal/
1-13
female
9y
PBL
mos 45,XX,der(13;14)(q10;q10)dn/46,XX,der(13;14)(q10;q10)dn
TS14 {77}
{506} case 1

14-
WmU-bal/
1-14
n.a.
n.a.
n.a.
45,der(13;14)(q10;q10)dn
TS14 {466} 1 case
14-
WmU-bal/
1-15

male
2m
PBL
45,XY,der(13;14)(q10;q10)dn
TS14 {1016} 1 case
14-
WmU-bal/
1-16

female
28y
PBL
45,XX,der(13;14)(q10;q10)mat
TS14 {1069} 1 case
14-
WmU-bal/
1-17
female
2.5y
PBL
45,XX,der(13;14)(q10;q10)mat
TS14 {19} case 2
14-
WmU-bal/
2-1
female
9m
PBL
45,XX,der(14;14)(q10;q10)
TS14; nystagmus; achromatopsia or rod monochromacy (gene on chromosome 8)
{41; 385} case Ar-150-04
14-
WmU-bal/
2-2
male
9m
PBL
45,XY,der(14;14)(q10;q10)*
TS14 {165}
14-
WmU-bal/
2-3
male
20y
PBL
mos 45,XY,der(14;14)(q10;q10)dn/46,XY,der(14;14)(q10;q10)+14 dn
TS14; diabetes mellitus
{230; 231}
14-
WmU-bal/
2-4
male
prenatal
AF
45,XY,der(14;14)(q10;q10)dn
TS14 {270}
14-
WmU-bal/
2-5
female
2y
AF
45,XX,der(14;14)(q10;q10)
TS14 {286} case 1
14-
WmU-bal/
2-6
female
newborn
PBL
45,XX,der(14;14)(q10;q10)
TS14 {289}
14-
WmU-bal/
2-7
male
n.a.
PBL
45,XY,der(14;14)(q10;q10)
TS14 {304} case 8
14-
WmU-bal/
2-8
male
~5y
PBL
45,XY,der(14;14)(q10;q10)
TS14 {353}
14-
WmU-bal/
2-9
male
19y
PBL
45,XY,der(14;14)(q10;q10)
  TS14; MODY diabetes
{439}
14-
WmU-bal/
2-10
female
prenatal
AF
45,XX,der(14;14)(q10;q10)dn
heterotaxia, polysplenia; TOP
{431}
14-
WmU-bal/
2-11
n.a.
n.a.
n.a.
45,der(14;14)(q10;q10)dn
TS14 {466} 1case
14-
WmU-bal/
2-12 to 2-13
n.a.
n.a.
n.a.
45,der(14;14)(q10;q10)
TS14 {466} 2 cases
14-
WmU-bal/
2-14
female
prenatal
AF
45,XX,der(14;14)(q10;q10)
TS14 {0} case provided by Dr. G. Thiel, Berlin, Germany
14-
WmU-bal/
3-1
n.a.
postnatal
PBL
45,der(14;15)(q10;q10)mat
TS14 {98} 1 case
14-
WmU-bal/
4-1
female
7y
PBL
45,XX,der(14;21)(q10;q10)mat
TS14 {95} case 1
14-
WmU-bal/
4-2
male
1y
PBL
45,XY,der(14;21)(q10;q10)dn
TS14 {19} case 1
14-
WmU-bal/
4-3
moved to 14-WmU-bal/1-17
14-
WmU-bal/
4-4
male
prenatal
AF
45,XY,der(14;21)(q10;q10)dn
TS14 {312} 1 case
14-
WmU-bal/
5-1
female
prenatal
AF
45,XY,der(14;22)(q10;q10)mat
TS14 {447}


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
14-
WmU-sSMC/

1-1
14-W-
q11.1
~11.2/
1-1
male/
prenatal
AF and PBL
47,XY,+mar[100%]
min(14)(pterq11.1~q11.2:)
different FISH-probes: subcenM
see below
{19} case 3; {0}
Amniocentesis due to abnormal triple test; child born in week 29 - birth weight 950g (10.th centile), length 37 cm (25th centile), OFC 26.3 (25th centile), Apgar 7/7; hypotonia up to 18 months of age-developmental delay; no mental retardation; at 4y all values [lt]3rd centile (height 85cm, weight 11.5 kg, OFC 47,5 cm); microcephaly, simian crease, developmental delay, small stature, hypotonic; TS14
14-
WmU-sSMC/

2-1
14-
CW-2
male/
prenatal
AF
47,XY,+mar[100%]
mar(14)
n.a.
AMA; normal child born; weight 2910g, length 51cm, OFC 34cm; no further information available {19} case 7
14-
WmU-sSMC/

3-1
14-W-
q11.1/
3-1
male/
31y
PBL
47,XY,+mar[26]/ 46,XY[4]
min(14)(pterq11.1:)
acrocenM, subcenM
male with short stature and adipositas, TS14 {0} case provided by Dr. A. Küchler, Essen, Germany
14-
WmU-sSMC/

4-1
14-
U-21
female/
newborn
PBL
47,XX,+mar[8]/
46,XX[18]
r(14)(::p11.2q12::)*
aCGH: break in q12: 30.94MB
maternal UPD 14; sSMC derived from paternal chromosome 14
SKY, array-CGH
West syndrome
{643}
14-
WmU-sSMC/
5-1

14-
U-39

female/
2y

PBL
47,XX,+mar[?%]/
46,XX[?%]

mar(14)
aCGH
Left hand agenesis, Hypotonia, Atrial Septal Defect (ASD) and dysmorphic features (hypertelorism, micrognathia, low-set ears)
{896} case 6
14-
WmU-sSMC/
6-1

14-
Uu-7

female/
6y

PBL
47,XX,+mar[?%]/
46,XX[?%]

mar(14)(pter
q11.2:) UPD(14)mat
aCGH
TS14 {1081}
14-
WmU-sSMC/
7-1

14-
Uu-8

male/
9y
PBL
PBL:
47,XY,+mar[21]/
46,XY[4]
light skin: 47,XY,+mar[2]/
46,XY[28]
dark skin: 47,XY,+mar[5]/
46,XY[25]
min(14)(p11.1
q11.1:)* UPD(14)mat
aCGH
TS14 {1284} case 2


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
14-
WmU-seg/

1-1
n.a.
n.a.
PBL
n.a.
---
exact localization not reported - only size of 12 MB
hypotonia, facial asymmetry, assymetric cerebellum
{652} case 20
14-
WmU-seg/
q13/

1-1
male
newborn
PBL
46,XY
---
14q13 to 14q31
see below
{158} case 1
growth retardation pre and postnatal, macrocephaly, hypoplastic mandible, clinodactyly, generalized muscular hypotoniam slight DD, incarcerated inguinal hernia, death at 6 months due to aspiration pneumonia
14-
WmU-seg/
q23/
1-1

female
child
PBL
n.a.
---
14q23 to 14q24.2

TS14 {394}
14-
WmU-seg/
q24.2/

1-1
male
26y
PBL
46,XY
---
14q24.2 to 14qter
TS14 {679}
14-
WmU-seg/
q24.2/
1-2

male
~1y
PBL
46,XY
---
14q24.2 to 14qter

TS14 {1056} case 8
14-
WmU-seg/
q32/

1-1
male
6y
PBL
46,XY
---
14q32
TS14 features
{623}
14-
WmU-seg/
q32.2/

1-1
n.a.
postnatal PBL
n.a.
---
14q32.2 to 14qter
SRS-like
{1369} case 27

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
14-
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
14-
WmU-
imb/
1-1

female
5y
PBL
46,XX
acc. to molecular genetics there must be a cell line 47,XX,+14
TS14 {144}
14-
WmU-
imb/
1-2

n.a.
postnatal?
PBL/ CH
46,XN
initially 47,XN,+14
TS14 {176}
14-
WmU-
imb/
1-3

female postnatal?
PBL/ CH
46,XX
initially 47,XX,+14
TS14 {178}
14-
WmU-
imb/
1-4

female
prenatal
AF/ placenta
47,XX,+14/46,XX
fetal in utero death
{298}
14-
WmU-
imb/
1-5

female
prenatal
AF/ placenta/ PBL
47,XX,+14/46,XX
TS14 {317}
14-
WmU-
imb/
1-6

female
prenatal
AF
47,XX,+14/46,XX
n.a.
{324}
14-
WmU-imb/
1-7

female
9y
PBL
47,XX,+14/46,XX
TS14 {941} case 1
14-
WmU-imb/
1-8

male
10y
PBL
47,XY,+14[1]/
46,XY[99]
interphase 22/200

TS14 {958}
14-
WmU-imb/
1-9

female
postnatal
PBL
47,XX,+14/46,XX
TS14 {1054}
14-
WmU-imb/
1-10

female postnatal
PBL 47,XX,+14[4%]/46,XX[96%]
TS14 {1114}
14-
WmU-imb/
1-11

n.a. postnatal
PBL
47,+14[50%}/46[50%]
TS14 {1119} 1 case
14-
WmU-imb/
1-12
female
15y
PBL 46,XX/47,XX,+14
TS14 {946}
14-
WmU-imb/
1-13

female postnatal
PBL
47,XX,+14[~3%}/
46,XX[97%]

TS14 {1295}
14-
WmU-
imb/
2-1

male
15y
PBL
45,X[9%]/46,XY[91%]
TS14 {19} case 6
14-
WmU-imb/
3-1

female
postnatal
PBL
47,XXX
TS14 {748}
14-
WmU-imb/
4-1

female
postnatal
PBL
45,XX,t(14;14)(q10;q10)/
46,
XX,t(14;14)(q10;q10)
TS14 {1190} 1 case

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
14-
WmU-
imb/
mos/
1-1

- - - - - -