ChromosOmics - Database


Icon by Leon Liehr             

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

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

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 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
 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/
1-56
 n.a.
 postnatal
 PBL
 n.a. KOS14 {1486} case 14
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}
14-
WpU-N/
5-1
 female
 prenatal AF
 46,XX
UPD(14)pat and UPD(4)pat and UPD(10)pat
KOS14 
{1476} patient 2


mosaic cases
Case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 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
 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
 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}
14-
WpU-sSMC/
2-1
 15-
Uu-
1
 n.a./
prenatal
 AF
 47,XN,+mar[?100%]
 inv dup(15)(q11.1)
 centromeric probes, subcenM
 KOS14 {1377}
14-
WpU-sSMC/
3-1
 14-
Uu-
9 		female/
newborn
 PBL
 47,XX,+mar[100%] min(14)(pter
→q11.2:)* UPD(14)mat
hg19: break at 21.560602 Mb
 aCGH
 KOS14 {1455}


segmental pat UPD-cases with or unclear clinical correlation

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 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/
q24.3/
1-2
 n.a.
 		prenatal
 AF
 n.a.
---
14q24.3 to 14qter
 TOP {1396}
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
 clinical symptoms
 reference
14-
WpU-seg/
q12/
mos/
1-1
 - - - - - -


pat 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-
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
 clinical symptoms
 reference
14-
WpU-imb/
mos/
1-1
 - - - - - -