ChromosOmics - Database

                                                     - CHROMOSOME  1 -                                                    
- unclear if maternal or paternal UPD -

UPD MATERNAL
 CHR . 1

UPD PATERNAL
 CHR . 1
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
grade of mosaicism

clinical symptoms
reference
01-
OU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
01-
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
grade of mosaicism

clinical symptoms
reference
01-
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
grade of mosaicism

final FISH result of the sSMC
FISH
methods

clinical symptoms
reference
01-
OU-sSMC/
1-1

-
-
-
-
-
-
-
-


segmental mat or pat UPD-cases without clinical findings

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
01-
OU-seg/
/

1-1
-
-
-
-
-
-

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
01-
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
grade of mosaicism

clinical symptoms
reference
01-
OU-imb/

1-1
-
-
-
-
-
-

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
01-
OU-imb/
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 with or unclear clinical correlation + normal karyotype

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
01-
WU-N/

1-1
n.a.
7y
PBL
n.a.
mild ASD and hyperactivity (iso-UPD 1 - no gene identifed)
{619} case 1
01-
WU-N/
2-1

n.a.
n.a.
PBL
n.a.
Kabuki syndrome
(gene
RAP1A in 1p13.2)
{885}
01-
WU-N/
3-1

male
newborn
PBL
n.a.
3-beta hydroxysteroid dehydrogenase type II related congenital adrenal hyperplasia (gene HSD3B29 in 1p12)
{968}
01-
WU-N/
4-1

male
12y
PBL
n.a.
Congenital insensitivity to pain and anhidrosis (CIPA) = (HSAN IV)
(gene
NTRK1 in 1q23.1)
{989}
01-
WU-N/
5-1
n.a.
prenatal trophectoderm biopsies
n.a.
n.a.
{1131}
01-
WU-N/
6-1
n.a.
n.a. PBL
n.a.
Stargardt disease (gene ABCA4  in 1p22.1)  {1206} 1 case
01-
WU-N/
7-1
n.a.
postnatal PBL
n.a.
Retinitis pigmentosa (clinical diagnosis of Stargardt disease - no gene identified - iUPD) {1213} case N1
01-
WU-N/
8-1
n.a.
postnatal PBL
n.a.
Unilateral enlarged vestibular aqueduct - no gene identified - iUPD) {1213} case N2
01-
WU-N/
9-1
n.a.
postnatal PBL
46,XN neurodev. disorder
(gene FMN2 in
1q43)
{1300} 1 case
01-
WU-N/
10-1 to 21-1
n.a.
postnatal PBL
46,XN
different neurodev. disorders {1300} 12 cases
01-
WU-N/
22-1
n.a.
postnatal PBL
46,XN neurodev. disorder
(gene PPT1 in
1p34.2 )
{1300} 1 case
01-
WU-N/
  23-1
n.a.
postnatal PBL
46,XN neurodev. disorder
(gene SZT2 in
1p34.2)
{1300} 1 case
01-
WU-N/
  24-1
n.a.
postnatal PBL
46,XN neurodev. disorder
(gene CPT2 in
1p32.3)
{1300} 1 case
01-
WU-N/
25-1
n.a.
postnatal PBL
46,XN neurodev. disorder
(gene MPZ in
1q23.3)
{1300} 1 case
01-
WU-N/
26-1
n.a.
postnatal PBL
46,XN neurodev. disorder
(gene ASPM in
1q31.3)
{1300} 1 case

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
01-
WU-N/
mos/
1-1
female
prenatal PBL
46,XX
UPD in 85%

Ventriculomegaly in sonography {1289} case 1


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

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
01-
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
grade of mosaicism

final FISH result of the sSMC
FISH
methods

clinical symptoms
reference
01-
WU-sSMC/
1-1

01-
U-15

n.a./
n.a.

PBL
n..a
mar(1)
acc. to aCGH most likely heterochromatic or low mosaic
size of UPD unclear
no gene identified

aCGH
most likely DYS and MR
{828; 1170} 1 case
01-
WU-sSMC/
2-1

01-
Uu-4
female/
prenatal
AF
47,XX,+mar[53]/
46,XX[22]
min(1)(:p13.2q1?1:) aCGH: arr[GRCh37] 115796490-121184898
aCGH
sonography normal, TOP {1226} case 1, {1289} case7


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

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
01-
WU-seg/
p31.3/

1-1
  male
4y
PBL
n.a.
---
1p31.3 to 1p31.1
neurodevelopmental disorder
(iso-UPD 1 - no gene identifed but ALG6 gene suggested to be possibly causative)
{1162} case 129
01-
WU-seg/
q22/

1-1
female
newborn
PBL
46,XX
---
1q22 to 1qter
Hutchinson-Gilford progeria syndrome (gene LMNA in 1q22)
{403} case 2
01-
WU-seg/
q25.3/

1-1
male
16y
PBL
n.a.
---
1q25.3 to 1q31.3
neurodevelopmental disorder but FRAX
(iso-UPD 1 - no gene identifed)
{1162} case 25

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
01-
WU-seg/
pter/
mos/

1-1
n.a.
2m
  PBL
n.a.
---
1pter to 1p36.32
2.8
Mb [hg19]
34% mos
sugg. epilepsy {1363} case 16
01-
WU-seg/
pter/
mos/

2-1
n.a.
3y
  PBL
n.a.
---
1pter to 1p22.1
93.9
Mb [hg19]
50% mos
multiple congenital anomalies {1363} case 15
01-
WU-seg/
q12/
mos/

1-1
n.a.
1.5y
PBL
n.a.
---
1q12 to 1qter
  142.6
Mb [hg19]
50% mos
multiple congenital anomalies {1363} case 17
01-
WU-seg/
q42.13/
mos/

1-1
n.a.
prenatal
CH n.a.
---
1q24.13 to 1qter
229.05
Mb [hg19]
15% mos
AMA {1363} case 18


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

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
01-
WU-imb/
1-1

female
28y
PBL
46,XN,der(1)(pter→p36.13:
:p36.12→p36.11:
:p36.12→qter)
in aCGH del:
17.16-20.41Mb
in aCGH dup:
20.42-25.35 Mb
UPD(1)seg: 1pter→1p36.13
in aCGH: 0-17.16 Mb

DD; MR; DYS; epilepsy
{854}
01-
WU-imb/

2-1
n.a
7y
PBL
46,XN,der(1)(pter→p36.12:
:p36.13→qter)
in aCGH dup:
19.48-23.04 Mb
UPD(1)seg: 1pter→1p36.13
in aCGH: 0-19.48 Mb

Autism spectrum disorder
{858} case 124
{1363} case 38
01-
WU-imb/
3-1

n.a.
5y
PBL
46,XN,der(1)(pter→p36.21:
:p36.22→qter)
in aCGH dup:
11.70-12.02 Mb
UPD(1)seg: 1pter→1p36.22
in aCGH: 0-11.70 Mb

Setleis syndrome
{858} case 125
{1363} case 37
01-
WU-imb/
4-1

n.a.
1y
n.a.
46,XN,der(1)(pter→p36.32:
:p36.33→qter)
in aCGH dup:
1.50-3.59 Mb
UPD(1)seg: 1pter→1p36.33
in aCGH: 0-1.50 Mb

DD
{858} case 126
{1363} case 39
01-
WU-imb/
5-1

male
25y
PBL
46,XY,der(1)dup trp(pter→q43:
:q43→ q42.12:
:q42.2→qter)
iUPD(1) 1q43-1qter

DD, DYS
{1045}
01-
WU-imb/
6-1

n.a.
newborn
PBL
aCGH x3: 1q42.3-1q43
iUPD: 1q43-1qter

multiple congenital abnormalities
{1363} case 40
01-
WU-imb/
7-1
n.a.
prenatal
AF; CH
in NIPT del(1)(p36)
and dup(1)(q42)
 in AF 46,XY

i(UPD) 1pter-p36.12
21.58 Mb [hg19]
multiple congenital anomalies
{1363} case 3
01-
WU-imb/
8-1
n.a.
prenatal
CH; PBL
in NIPT del(1)(p36.13) and mos dup(18)(q22q23)
in PBL:46,XN
i(UPD) 1pter-p36.13
17
.28 Mb [hg19]
VSD, esophagial atresia
{1363} case 5

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
01-
WU-seg/
p36-p33
4 seg/
mos/

1-1
  male
26y
PBL
46,XY,del(1)(p36.33)
---
several mosiac grades for UPDs of following regions:
1p33-1p34.3
1p34.3-1p35.3
1p35.3-1p36.12
1p36.12-1p36.33
1p36-microdeletion syndrom {1224}