ChromosOmics - Database


Icon by Leon Liehr              

                                                     - 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
 clinical symptoms
 reference
01-
OU-N/
1-1
 male prenatal AF 46,XY none/ IUGR
 {1578} case 1

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 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
 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
 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
 clinical symptoms
 reference
01-
OU-seg/
/
1-1
 -
 -
 -
 -
 -
 -

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 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
 clinical symptoms
 reference
01-
OU-imb/
1-1 to 1-2 		n.a.
 prenatal PBL
 46,XN,+1
acc. to NIPT
 normal child born
 {1389} cases 128 and 130

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 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
 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/
5-2 		n.a.
 postnatal PBL
 n.a.
 autism spectrum disorder
 {1450} 1 case
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 10-12 		n.a.
 postnatal PBL
 46,XN
 different neurodev. disorders {1300} 12 cases
01-
WU-N/
13-1 		n.a.
 postnatal PBL
 46,XN neurodev. disorder
(gene PPT1 in 1p34.2 )
 		{1300} 1 case
01-
WU-N/
  14-1 		n.a.
 postnatal PBL
 46,XN neurodev. disorder
(gene SZT2 in 1p34.2)		 {1300} 1 case
01-
WU-N/
  15-1 		n.a.
 postnatal PBL
 46,XN neurodev. disorder
(gene CPT2 in 1p32.3)		 {1300} 1 case
01-
WU-N/
16-1 		n.a.
 postnatal PBL
 46,XN neurodev. disorder
(gene MPZ in 1q23.3)		 {1300} 1 case
01-
WU-N/
17-1 		n.a.
 postnatal PBL
 46,XN neurodev. disorder
(gene ASPM in 1q31.3)		 {1300} 1 case
01-
WU-N/
18-1 		n.a.
 prenatal
 AF n.a. Ehlers-Danlos syndrome, kyphoscoliotic type, 1
(gene PLOD1  in 1p36.22)
 {1404} 1 case
01-
WU-N/
19-1 		female
 prenatal
 AF 46,XX DYS, TOP
 {1542} case 27
01-
WU-N/
20-1 		male
 prenatal
 AF 46,XY
also UPD 11, 13 and 14
 		DYS, TOP
 {1542} case 2

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 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
 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
 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)(:p13.2→q1?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
 clinical symptoms
 reference
01-
WU-seg/
p32.1/
1-1
 female
 12y
 PBL
 n.a.
---
1p32.1 to 1p13.3
glycogen storage
disease
(AGL gene in 1p21.2)
 {1448} case 1
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/
p31.1/
1-1
   male
 1.3y
 PBL
 n.a.
---
1p31.1 to 1p22.1
and 9q22.2 to 9q31.2
 		medium-chain acyl-CoA dehydrogenase
(MCAD) deficiency
(ACADM gene in 1p31.1) and 17β-HSD3
deficiency (HSD17B3 gene in 9q22.32)
 {1448} case 2
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/
q25.1/
1-1
 male
 postnatal
 PBL
 n.a.
---
1q25.1 to 1qter
 DYS, DD
(iso-UPD 1 - no gene identifed)
 {1559} case 1
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
 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
 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
01-
WU-imb/
9-1 to 9-4 		n.a.
 prenatal PBL
 46,XN,+1
acc. to NIPT
 TOP or born with conditon not related to UPD 1; no gene identified as disease causing
 {1389} cases 98-100, 129

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
01-
WU-imb/
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}