ChromosOmics - Database


Icon by Leon Liehr             

                                                     - CHROMOSOME 7 -                                                    
- unclear if maternal or paternal UPD -

UPD MATERNAL
 CHR . 7
 		UPD PATERNAL
 CHR . 7
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
07-
OU-N/
1-1
 - - - - - -

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
07-
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
07-
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
07-
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
07-
OU-seg/
/
1-1 		- - - - - -

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
07-
OU-seg/
q11.2/
mos/
1-1
 n.a.
 adult
 PBL
 n.a.; acc. to array no imbalance in PBL
---
7q11.2 to 7q21.3 (29% of cells) and 7q21.3 to 7qter (18% of cells)
 normal adult with bladder cancer
 {545} case 1105
07-
OU-seg/
q11.22/
mos/
1-1
 n.a.
 adult
 PBL
 n.a. acc. to array duplication of 1p35.2-1p32.2 in 74% of PBL
---
1pter to 1p35.2 (55% of cells) and 7q11.22 to 7qter (48% of cells)
 normal control
 {545} case 468


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

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
07-
OU-imb/
1-1
 n.a.
 newborn
 AF and PBL
 NIPT: trisomy 7
in PBL: iUPD(7) in 7q11.23-q21.11
 normal child born
 {1104} case 43

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
07-
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
07-
WU-N/
1-1
 female 2y PBL n.a.
also UPD 13
see also  13-WU-N/
2-1		 DD, MR, dyslalia, ataxia
 {1080} p16

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
07-
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
07-
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
07-
WU-sSMC/
1-1
 07-
U-19
 female/
6y
 PBL
 de novo
 47,XX,+mar[?100%]
 r(7)(::p11.2→q11.23::)
aCGH: 70.42-73.21 Mb
iso-UPD 7 of normal chrs. 7
 macrocephaly, DD, self injury behavior
 {635}


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
07-
WU-seg/
p14.3/
1-1
 n.a.
 postnatal
 PBL
 n.a.
---
7p14.3 to 7p14.1
 neurodevelopmental disorder
(iso-UPD 7 - no gene identifed)
 {1162} case 346
07-
WU-seg/
p21.1p14.1/
1-1
 male
 n.a.
 PBL
 n.a.
---
7p21.1-14.1 (size 22.36 Mb)
 n.a.
 {1021} case 14
07-
WU-seg/
p21.13/
1-1
 n.a.
 postnatal
 PBL
 n.a.
---
7q21.13 to 7q31.1
 neurodevelopmental disorder
(iso-UPD 7 - no gene identifed)
 {1162} case 169
07-
WU-seg/
q21.3/
1-1
 n.a.
 5y
 PBL
 n.a.
---
7q21.3 (size 1.098 Mb)
 DD, autism, hyperactivity
{924}
case 1
07-
WU-seg/
q21.3/
2-1
 n.a.
 11y
 PBL
 n.a.
---
7q21.3 (size 1.062 Mb)
 DD, intellectual disability
 {924}
case 2
07-
WU-seg/
q31.33-32.3/
1-1
 n.a.
 2y
 PBL
 n.a.
---
7q31.33-32.3 (size 4.257 Mb)
 DD, intellectual disability, microcephaly, seizures, hypotonia, DYS
 {924}
case 3
07-
WU-seg/
q31.33-32.3/
2-1
 n.a.
 2.5y
 PBL
 n.a.
---
7q31.33-32.3 (size 1.089 Mb)
 DD, intellectual disability, microcephaly, seizures, hypotonia, DYS
 {924}
case 4
07-
WU-seg/
q32.1-34/
1-1
 female 60y PBL
 n.a.
---
7q32.1-34 (size 9.8Mb)
iUPD
 erythrocytosis - gene BPGM in 7q33 {1772}
07-
WU-seg/
q32.2/
1-1
 n.a.
 3y
 PBL
 n.a.
---
7q32.2 (size 1.033 Mb)
 DD, intellectual disability, DYS
 {924}
case 5
07-
WU-seg/
q32.2/
2-1
 n.a.
 15y
 PBL
 n.a.
---
7q32.2 (size 1.020 Mb)
 DD, intellectual disability, heart defect
 {924}
case 6

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
07-
WU-seg/
/
mos/
1-1 		- - - - - -


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

no UPD 7 detected in 247 cases diagnosed with trisomy 7 in NIPT {1306}

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
07-
WU-imb/
1-1 to 1-2
 n.a.
 prenatal PBL
 46,XN,+7
acc. to NIPT
 case 115 TOP
case 114 - possible SRS
 {1389} cases 114 and 115

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
07-
WU-imb/
mos/
1-1
 - - - - - -