ChromosOmics - Database


Icon by Leon Liehr             

                                                     - CHROMOSOME 15 -                                                    
- unclear if maternal or paternal UPD -

UPD MATERNAL
 CHR . 15
 		UPD PATERNAL
 CHR . 15
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


mat or pat UPD-cases without clinical findings + normal karyotype

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
15-
OU-N/
1-1
 - - - - - -

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
15-
OU-N/
mos/
1-1
 - - - - - -


mat or pat UPD-cases without clinical findings + balanced karyotype

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
15-
OU-bal/
1-1
 - - - - - -


mat or 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
15-
OU-sSMC/
1-1
 - - - - - - - -


segmental mat or pat UPD-cases without clinical findings

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
15-
OU-seg/
/
1-1
 - - - - - -

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
15-
OU-seg/
/
mos/
1-1
 - - - - - -


mat or pat UPD-cases without clinical findings + other imbalances

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
15-
OU-imb/
1-1
 - - - - - -

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
15-
OU-imb/
mos/
1-1
 - - - - - -


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

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
15-
WU-N/
1-1
 n.a.
 prenatal
 AF
 46,XN
 abnormal sonography
 {899} 1 case
15-
WU-N/
2-1
 n.a.
 postnatal
 PBL
 n.a.
 abnormal
 {947} case 227a
15-
 WU-N/
3-1
 n.a.
 n.a.
 n.a.
 n.a.
 paternity testing
 {1156} 1 case
15-
WU-N/
4-1 to 4-17 		n.a.
 postnatal PBL
 46,XN
 different neurodev. disorders {1300} 17 cases
15-
WU-N/
5-1 to 5-2 		female
 prenatal AF
 46,XX
 DYS, TOP {1542} cases 22 and 26
15-
WU-N/
6-1 		n.a. prenatal blastocyst
 n.a. n.a. {1599} case NA20408

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
15-
WU-N/
mos/
1-1
 - - - - - -


mat or pat UPD-cases with or unclear clinical correlation+ balanced karyotype

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
15-
WU-bal/
1-1 		-
 -
 -
 -
 -
 -


mat or 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
15-
WU-sSMC/
1-1
 - - - - - - - -


segmental mat or pat UPD-cases with or unclear clinical correlation

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
15-
WU-seg/
1-1
 n.a.
 n.a.
 PBL
 n.a.
---
exact localization not reported - only size of 6 MB
 severe global DD
 {652} case 21
15-
WU-seg/
2-1
 n.a.
 n.a.
 PBL
 n.a.
---
exact localization not reported - only size of 30 MB
 hypotonia in newborn
 {652} case 22
15-
WU-seg/
3-1
 n.a.
 n.a.
 PBL
 n.a.
---
exact localization not reported - only size of 34 MB
 ?PWS
 {652} case 23
15-
WU-seg/
q11.2/
1-1
 n.a.
 ~3y
 PBL
 n.a.
---
15q11.2 (size 1.068 Mb)
 intellectual diability, DYS, feeding problems, DD
 {924} case 10
15-
WU-seg/
q11.2/
2-1
 n.a.
 4y
 PBL
 n.a.
---
15q11.2 (size 1.158 Mb)
 intellectual diability, DYS, hyperactive, DYS, seizures
 {924} case 11
15-
WU-seg/
q11.2/
3-1
 n.a.
 5y
 PBL
 n.a.
---
15q11.2 (size 1.002 Mb)
 intellectual diability, DYS, hyperactive, DYS, seizures
 {924} case 12
15-
WU-seg/
q11.2/
4-1
 n.a.
 5y
 PBL
 n.a.
---
15q11.2 (size 1.067 Mb)
 DD, autism, DYS
 {924} case 13
15-
WU-seg/
q11.2/
5-1
 n.a.
 18y
 PBL
 n.a.
---
15q11.2 (size 1.224 Mb)
 intellectual diability, others
 {924} case 14
15-
WU-seg/
q14/
1-1
 male
 postnatal
 PBL
 n.a.
---
15q14 to 15q25.3
 DYS, DD, seizures
(no gene identified)
 		{155} case 11
15-
WU-seg/
q21.3/
1-1
 n.a.
 n.a
 PBL
 n.a.
---
15q21.3 to q24.1
(only iUPD of this region)
 no PWS, or AS most likely dymorphic and MR
no gene identified
 {828; 1170} 1 case
15-
WU-seg/
q23/
1-1
 n.a.
 prenatal
 fibroblasts
 n.a.
---
15q23 to q24.1
(only iUPD of this region studied)
 abortion
 {1042} case C-1140

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
15-
WU-seg/
q22.31/
mos/
1-1
 n.a.
 prenatal
 CH n.a.
---
15q22.31 to 15qter
64.73 Mb [hg19]
30% mos
 		 sonograph. abnomalies {1363} case 31


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

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
15-
WU-imb/
1-1
 n.a.
 prenatal
 free fetal DNA
 mos 47,+15/46
 n.a.
 {878; 887}
15-
WU-imb/
1-2 to 1-3
 n.a.
 prenatal
 chorion
 mos 47,+15/46
 n.a.
 {902; 1057; 1058; 1059}
overall 2 cases
15-
WU-imb/
1-4 to 1-5
 n.a.
 n.a. n.a. mos 47,+15/46
 n.a.
 {1170} 2 cases
15-
WU-imb/
1-6 to 1-8
 n.a.
 prenatal n.a. mos 47,+15/46
 n.a.
 {1190} 3 cases
15-
WU-imb/
1-9 to 1-10
 n.a.
 prenatal placenta 46,XN,+15
acc. to NIPT 		n.a.
 {1601} 2 cases
15-
WU-imb/
2-1
 n.a.
 prenatal n.a. mos 46,+15,t(15;15)(q10;q10)/
45,t(15;15)(q10;q10)
 n.a.
 {1511} case 4

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
15-
WU-imb/
mos/
1-1
 n.a.
 12y
 PBL n.a.
---
15q13.3 to 15q15.2
15q15.2 to 15q22.31
15q22.31 to 15qter
size overall 71.24 Mb [hg19]
15, 46 and 75% mos
in aCGH also mosaic del(15)(q25.1q25.3)
 		clinically abnormal, incl. short stature; microdel 15q25.2 like {1363} case 30