ChromosOmics - Database

                                                     - CHROMOSOME 1 -                                                    
- maternal  UPD -

UPD unclear if maternal or paternal
 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 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-
OmU-N/

1-1
n.a.
childhood
PBL
46,XN
diabetes melitus in both children and in mother; apart from that both children normal - diabetes not from UPD 1
{47}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
01-
OmU-N/
mos/

1-1
- - - - - -


mat 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-
OmU-bal/
1-1

- - - - - -


mat 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-
OmU-sSMC/
1-1

- - - - - - - -


segmental mat UPD-cases without clinical findings

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
01-
OmU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
01-
OmU-seg/
/
mos/

1-1
- - - - - -


mat 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-
OmU-imb/

1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
01-
OmU-imb/
mos/

1-1

- - - - - -


mat 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-
WmU-N/
1-1
female
newborn
PBL
46,XX
Zellweger syndrome (gene PEX10 in 1p36.32)
{34}
01-
WmU-N/
2-1
male
newborn
PBL
46,XY
Herlitz junctional epidermolysis bullosa (gene LAMB3 in 1q32.2)
{36}
01-
WmU-N/
3-1
male
6y
PBL
46,XY
Chediak-Higashi syndrome (gene LYST in 1q42.3)
{45}
01-
WmU-N/
3-2
female
3y
PBL
46,XX
Chediak-Higashi syndrome (gene LYST in 1q42.3) seg-iUPD but hetUPD not tested
{1285}
01-
WmU-N/
4-1
male
newborn
PBL
46,XY
Maple syrup urine disease type 2 (gene MSUD2 in 1p21.2)
{46}
01-
WmU-N/
5-1
male
9y
PBL
46,XY
autism (gene n.d.)
{48}
01-
WmU-N/
6-1
female
newborn
PBL
46,XX
Herlitz junctional epidermolysis bullosa (gene LAMC2 in 1q25.3)
{499}
01-
WmU-N/
7-1

n.a.
10m
PBL
n.a.
CD45-deficient severe combined immunodeficiency (gene CD45 = PTPRC in 1q31.3)
{684}
01-
WmU-N/
8-1

female
newborn
PBL
n.a.
T-cell immunodeficiency (gene LCK in 1p35.2)
{698}
01-
WmU-N/
9-1

n.a.
postnatal
PBL
n.a.
Hereditary pyropoikilocytosis (gene SPTA1 in 1q23.1)
{772}
01-
WmU-N/
9-3

female
2y
PBL
n.a.
Hereditary pyropoikilocytosis (gene SPTA1 in 1q23.1)
{838}
01-
WmU-N/
10-1

male
2y
PBL
n.a.
Mandibuloacral dysplasia (gene LMNA in 1q22)
{787}
01-
WmU-N/
11-1

male
newborn
PBL
n.a.
infantile hypophosphatasia (gene ALPL in 1p36.12)
{869}
01-
WmU-N/
12-1

n.a.
postnatal
PBL
n.a.
permanent neonatal diabetes mellitus - PNDM
(gene
SLC19A2 in 1q24.2)
{1047}
01-
WmU-N/
12-2

female
3.5y
PBL
n.a.
diabetes
severe anemia, acupoint-size bleeding spots, and a few ecchymoses all over her body, as well as astigmatism and hyperopia (gene SLC19A2 in 1q24.2)
{1307}
01-
WmU-N/
13-1

male
postnatal; ?child
PBL
n.a.
Usher syndrome
(gene USH2A
in 1q41)
{1232}
01-
WmU-N/
14-1

female
postnatal; ?child
PBL
46,XX
congenital adrenal hyperplasia and Bartter syndrome
(gene HSD3B2 
in 1p12 and CLCNKB in 1p36.13)
{1254}
01-
WmU-N/
15-1

male
postnatal; ?child
PBL
n.a.
autosomal recessive cerebellar ataxia
(gene ADCK3 = COQ8A 
in 1q42.13)
{1345} 1 case
01-
WmU-N/
16-1

male
7y
PBL
n.a.
epileptic disorder
(gene CNTN2 
in 1q32.1)
{1347}
01-
WmU-N/
17-1

n.a.
postnatal
PBL
n.a.
iUPD
(gene not identified)
{1340} case P1
01-
WmU-N/
18-1

n.a.
postnatal
PBL
n.a.
neurogenetic disorder
(gene
KCTD3  in 1q41)
{1340} case P4
01-
WmU-N/
19-1

n.a.
postnatal
PBL
n.a.
  Greenberg dysplasia or Pelger-Huet Anomaly with mild skeletal anomalies
(gene LBR
in 1q42.12)
{1340} case P5
01-
WmU-N/
20-1

male
postnatal
PBL
n.a.
 Leber Congenital Amaurosis (gene RPE65 in 1p31.3) {1362}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
01-
WmU-N/
mos/
11-1

n.a.
postnatal
PBL
n.a.
iUPD in mosaic

restrictive dermopathy or related progeroid syndrome
(gene ZMPSTE24
in 1p34.2)
{1340} case P2; {1062} 1 case;
{1173} 1 case



mat 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-
WmU-bal/
1-1
-
-
-
-
-
-


mat 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-
WmU-sSMC/
1-1

01-
W-p21.1/
1-1

female/
6y

PBL

47,XX,+mar[14]/
46,XX[26]

r(1)(::p21.1q12::)

midi; telomeric probes

see below

{1}
Born at term after uneventful pregnancy; birth weight 2500g, length 49cm; at 6y MR; height and weight normal; HC 44cm (<3rd centile); additionally temporal narrowing, downward slanting palpebral fissures, long eyelashes, high palate, pointed chin, low set, dysplastic ears, hip dysplasia, tapering fingers with clinodactyly of fingers 2, 4, 5.
01-
WmU-sSMC/
2-1
01-
Uu-3

male/
postnatal

PBL
47,XY,+mar[20]/
46,XY[80]

der(1) (:p21.1→p21.1)
aCGH: arr[GRCh37] 105,427,063- 121,330,906
mat hetero/
isodisomy at 1p36.33p34.3, 1p34.3p12 and 1q21.3q25.3

aCGH
DD; micocephaly
{1174} case sSMC1


segmental mat 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-
WmU-seg/
n.a./
1-1

n.a.
postnatal
PBL
n.a.
---
region n.a.

see below
{763} case 257814
Cutaneous finger syndactyly, 2-3 toe syndactyly, short nose, epicanthus, bilateral single transverse palmar creases, wide intermamillary distance, abnormality of the skin, delayed speech and language development; gene n.d.

01-
WmU-seg-
p13.1~11.2/

1-1
male
newborn
PBL
46,XY
---
1p13.1~11.2 to 1qter
Hutchinson-Gilford progeria syndrome (gene LMNA in 1q22)
{403} case 1
01-
WmU-seg-
p1/1.3

1-1
n.a.
n.a.
n.a.
n.a.
---
1p31.3 to 1p13
Leber Congenital Amaurosis (gene RPE65 in 1p31.3)
{710} case 1
01-
WmU-seg-
q21.3/

1-1
male
newborn
PBL
n.a.
---
1q21.3 to 1q23.1
Restrictive dermopathy-like phenotype (gene LMNA in 1q22)
{683}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
01-
WmU-seg-
/
mos/

1-1
-
-
-
-
-
-


mat 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-
WmU-imb/
1-1
n.a 9y
AF; PBL
AF:46,XN,der(1)t(1;17)(p36.3;q21)[48]/46,XN[2]
PBL at 9y:46,XN
---
1pter to 1p36.22;
9.39 Mb
[hg19]
multiple congenital anomalies
{1363} case 1
01-
WmU-imb/
2-1
n.a.
prenatal
AF; CH
in NIPT del(1)(p36)
in AF 46,XN
---
1pter to 1p36.22;
9.33 Mb
[hg19]
normal sonography
{1363} case 2
01-
WmU-imb/
3-1
female
mother has same "UPD due to del"
in 1.63% of her blood cells
~1y
PBL
n.a.
PI3K-Delta Syndrome 1
(gene
PIK3CD  in 1p36.22)
{1212}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
01-
WmU-imb/
mos/
1-1
n.a.
prenatal
AF; CH; PBL
in NIPT del(1)(p36.23) and dup(1)(p36.23p36.22)
in child (blood) 80% of cells with imbalance aCGH)
---
1pter to 1p36.13
16.32 Mb [hg19]
normal as child
{1363} case 4