ChromosOmics - Database


Icon by Leon Liehr             

                                                     - CHROMOSOME 11 -                                                    
- unclear if maternal or paternal UPD -

UPD MATERNAL
 CHR . 11
 		UPD PATERNAL
 CHR . 11
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
11-
OU-N/
1-1
 - - - - - -

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
11-
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
11-
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
11-
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
11-
OU-seg/
/
1-1
 - - - - - -

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
11-
OU-seg/
q13.1/
mos/
1-1
 n.a.
 adult
 PBL
 n.a.; acc. to array no imbalance in PBL
---
11q13.1 to 11qter (in 22% of PBL)
 normal adult
 {545} case 843


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

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
11-
OU-imb/
1-1
 female
 28y
 PBL
 46,XX
UPD(11) due to rescue of a karyotype 46,XX,del(11)(q22.3)
 normal female, but 2 children with del(11)(q22.3)
 {1102}

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
11-
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
11-
WU-/
1-1
 n.a.
 n.a. n.a. n.a. n.a.
 {1170} 1 case
11-
WU-/
2-1
 male prenatal AF 46,XY
also UPD 1, 13 and 14 		DYS, TOP {1542} case 2


mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
11-
WU-/
mos/
1-1
 male
 78
 PBL
 n.a.
UPD in mosaic
 late onset ß-thalassemia
(gene HBB in 11p15.4)
 {823}


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
11-
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
11-
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
11-
WU-seg/
1-1
 n.a.
 postnatal
 PBL
 n.a.
---
exact localization or size not reported
Microcephaly, developmental delay, seizures,
stereotypic hand movement
 {1213} case N7
11-
WU-seg/
pter/
2-1
 n.a.
 4y
 PBL
 n.a.
---
11pter to 11p15.4 (size 1.554 Mb)
 DD, intellectual disability, DYS
 {924} case 9
11-
WU-seg/
pter/
3-1
 n.a.
 5y
 PBL
 n.a.
---
11p15.5 to 11p15.4 (size 1.554 Mb)
 DD, autism, intellectual disability, overgrowth
 {924} case 7
11-
WU-seg/
pter/
4-1
 n.a.
 10y
 PBL
 n.a.
---
11p15.5 to 11p15.4 (size 1.147 Mb)
 DD, autism, intellectual disability, overgrowth
 {924} case 8
11-
WU-seg/
q12.2/
1-1
 female
 prenatal AF
 46,XX
---
11q12.2 to 11qter
 IUGR, Term birth
 {1578} case 26

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
11-
WU-seg/
pter/
mos/
1-1
 n.a.
 4m
 PBL
 46,XN
---
11pter to 11p15.1 (in 20% of PBL)
 hemihypertrophy
 {652} case 10
11-
WU-seg/
pter/
mos/
1-2
 n.a.
 adult
 PBL
 n.a.; acc. to array no imbalance in PBL
---
11pter to 11p15.1 (in 30% of PBL) 		normal adult with gastrointestinal cancer
 {1083}
case in Tab 3
11-
WU-seg/
pter/
mos/
2-1
 n.a.
 10y
 PBL
 46,XY
---
11p15.5 to 11p12 ([hg19] chr11: 491 333-43 189 376)
iUPD in mosaic
 congenital heart defect and multiple developmental disorders
 {1200}
11-
WU-seg/
q13.4/
mos/
1-1
 n.a.
 prenatal
 AF n.a.
---
11q13.4 to 11qter
72.66 Mb [hg19]
25% mos
 		different sonograph. abnomalies {1363} case 23


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
11-
WU-imb/
1-1
 - - - - - -

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
11-
WU-imb/
mos/
1-1
 - - - - - -