ChromosOmics - Database


Icon by Leon Liehr             

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

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 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
 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
 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
 clinical symptoms
 reference
14-
OmU-seg/
/
1-1
 - - - - - -

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 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
 clinical symptoms
 reference
14-
OmU-imb/
1-1
 - - - - - -

mosaic cases

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 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
 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
 n.a.
 prenatal AF
 n.a.
 TS14 {1583} 1 case
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/
1-58 to 1-65
 n.a.
 postnatal
 PBL
 46,XN
 TS14 {1384} 8 cases
14-
WmU-N/
1-66
 n.a.
 postnatal
 PBL
 n.a.
 TS14 {1426} 1 case
14-
WmU-N/
1-67
 n.a.
 postnatal
 PBL
 n.a.
 TS14 {1486} case 13
14-
WmU-N/
1-68
 n.a.
 postnatal
 PBL
 n.a.
 TS14 {1494} 1 case
14-
WmU-N/
1-69
 female
 prenatal
 AF
 n.a.
 TS14 {1496} case 3
14-
WmU-N/
1-70
 male
 21y
 PBL
 n.a.
 TS14 {1546}
14-
WmU-N/
1-71
 female
 postnatal PBL
 n.a.
 TS14 {1559} case 6
14-
WmU-N/
1-72 to 1-75
 n.a.
 postnatal PBL
 n.a.
 TS14 {1603} cases 9-12
14-
WmU-N/
1-76 to 1-77
 n.a.
 prenatal
 AF
 n.a.
 TS14 {1604} cases 7 and 8 in App. 2
14-
WmU-N/
1-78 to 1-105
 n.a.
 postnatal PBL
 n.a.
 TS14 {1605} 26 cases
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}
14-
WmU-N/
8-1
 female
 2y
 PBL
 n.a.
 TS14 resembling SRS
 {988}
14-
WmU-N/
8-2
 n.a.
 postnatal PBL
 n.a.
 TS14 resembling SRS
 {1586} 1 case

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 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
 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}
14-
WmU-bal/
6-1
 female
 prenatal
 AF
 46,XN,t(5;15)(q32;q25)pat, t(6;21)(p21.3;q22.3)mat
 TS14 {1602}


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
 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)(pter→q11.1~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)(pter→q11.1:)
 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)(::p11.2→q12::)*
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
 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
 clinical symptoms
 reference
14-
WmU-seg/
/
mos/
1-1
 - - - - - -


mat UPD-cases with or unclear clinical correlation + other imbalances

for review of trisomy 14 and UPD see Ref {1443}

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding
result
 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/
1-14
 female ~1.5y
 PBL
 47,XX,+14[15]/
46,XX[85]
 TS14 {1589}
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
14-
WmU-imb/
5-1
 n.a.
 prenatal PBL
 46,XN,dup(14)(q23.3q24.3)
TS14 expected; TOP {1389} case 122

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
14-
WmU-imb/
mos/
1-1
 - - - - - -