|
|
ChromosOmics - Database
|
-
CHROMOSOME 2 -
-
maternal UPD -
|
|
mat UPD-cases
without clinical findings + normal karyotype
|
case no.
|
gender
|
age at diagnosis
|
studied
material
|
GTG-banding result
|
clinical symptoms
|
reference
|
02-
OmU-N/
1-1
|
female
|
4y
|
PBL
|
46,XX
|
no clinical
signs; detected due to paternity test
|
{206}
|
02-
OmU-N/
1-2
|
male
|
n.a.
|
PBL
|
n.a.
|
no clinical
signs; detected due to paternity test
|
{1072}
|
02-
OmU-N/
1-3
|
n.a.
|
n.a.
|
PBL
|
n.a.
|
no clinical
signs; detected due to paternity test
|
{1305}
|
02-
OmU-N/
1-4
|
n.a.
|
n.a.
|
PBL
|
n.a.
|
no clinical
signs; detected due to paternity test
|
{1517} case 3
|
mosaic cases
case no.
|
gender
|
age at
diagnosis
|
studied
material
|
GTG-banding
result
|
clinical
symptoms
|
reference
|
02-
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
|
02-
OmU-bal/
1-1
|
female
|
36y
|
PBL
|
46,XX,i(2)(p10),i(2)(q10)
|
normal woman repeated abortions
|
{37}
|
02-
OmU-bal/
2-1 to
2-2
|
see 02-OmU-seg-q11/1-1 to 1-2
|
|
mat 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
|
02-
OmU-sSMC/
1-1
|
-
|
-
|
-
|
-
|
-
|
-
|
-
|
-
|
|
segmental
mat UPD-cases without clinical findings
|
case no.
|
gender
|
age at diagnosis
|
studied
material
|
GTG-banding result
|
clinical symptoms
|
reference
|
02-
OmU-seg/
p16/
1-1
|
female
|
22y
|
PBL
|
46,XX
---
2p16
|
normal
female
|
{341}
|
02-
OmU-seg/
q11/
1-1
|
female
|
36y
|
PBL
|
46,XX,i(2)(p10),i(2)(q10)
---
2q11 to
2qter
|
normal
female repeated abortions
|
{58}
{348;
349} family 4
|
02-
OmU-seg/
q11/
1-2
|
male
|
34y
|
PBL
|
46,XY,i(2)(p10),i(2)(q10)
---
2q11 to
2qter
|
normal male
repeated abortions in female partner
|
{450}
|
mosaic cases
case no.
|
gender
|
age at
diagnosis
|
studied
material
|
GTG-banding
result
|
clinical
symptoms
|
reference
|
02-
OmU-seg/
/
mos/
1-1
|
- |
- |
- |
- |
- |
- |
|
mat UPD-cases without clinical findings + other
imbalances |
case no.
|
gender
|
age at diagnosis
|
studied
material
|
GTG-banding result
|
clinical symptoms
|
reference
|
02-
OmU-imb/
1-1
|
n.a.
|
prenatal
|
mat PBL
|
47,XN,+2
acc. to NIPT
|
normal child
born
|
{1389} case 103
|
02-
OmU-imb/
1-2
|
male
|
prenatal
|
mat PBL
|
47,XY,+2[11]/
46,XY[19]
|
normal child
born
|
{1484} |
02-
OmU-imb/
1-3
|
male
|
prenatal
|
AF
|
47,XN,+2[?%]/
46,XN[?%]
|
stilbirth
|
{1520} case 5
|
mosaic cases
case no.
|
gender
|
age at
diagnosis
|
studied
material
|
GTG-banding
result
grade of mosaicism
|
clinical
symptoms
|
reference
|
02-
OmU-imb/
mos/
1-1
|
n.a. |
prenatal |
AF |
47,XY,+2[7%]/
46,XY[93%]
UPD in 12% |
AMA,
normal child born
|
{1515} case
1
|
|
mat
UPD-cases with or unclear clinical correlation +
normal karyotype |
case no.
|
gender
|
age at diagnosis
|
studied
material
|
GTG-banding result
|
clinical symptoms
|
reference
|
02-
WmU-N/
1-1
|
male
|
postnatal
|
PBL
|
n.a.
|
Severe
congenital hypothyroidism (gene TPO in 2p25.3)
|
{128;
512}
|
02-
WmU-N/
2-1
|
male
|
postnatal
|
PBL
|
n.a.
|
Infantile-onset
ascending spastic paralysis (gene IAHSP
in 2q33.1)
|
{212}
|
02-
WmU-N/
3-1 to
3-2
|
male and
n.a.
|
postnatal
|
PBL
|
n.a.
|
Lethal
trifunctional protein deficiency (gene HADHA/ LCHAD in 2p23.2)
|
{337} 2
cases
|
02-
WmU-N/
4-1
|
male
|
newborn
|
PBL
|
n.a.
|
inherited
disorders of pulmonary surfactant metabolism
(gene SFTPB in 2p11.2)
|
{490}
Patient with SP-B deficiency
|
02-
WmU-N/
5-1
|
male
|
newborn
|
PBL
|
n.a.
|
Familial
male-limited precocious puberty (gene LHCGR in 2p16.3)
|
{509}
|
02-
WmU-N/
6-1
|
female
|
newborn
|
PBL
|
n.a.
|
Homozygous
deletion of approximately 28.6 kb that
disrupts the PREPL and the CAMKMT genes but
not the SLC3A1 gene
|
{677;
747}
|
02-
WmU-N/
7-1
|
female
|
21y
|
PBL
|
46,XX
|
Klippel Feil
syndrome and more complex aberrations
iUPD but no
gene identified as causative
|
{704}
|
02-
WmU-N/
8-1
|
female
|
newborn
|
PBL
|
46,XX
|
Hepatocerebral
mitochondrial DNA depletion syndrome (gene DGUOK
in 2p13.1)
|
{708}
|
02-
WmU-N/
9-1
|
n.a.
|
postnatal
|
PBL
|
n.a.
|
see below
|
{763}
case 259010
|
Glandular
hypospadias, overlapping toe, bicuspid
aortic valve, global developmental delay,
meckel diverticulum, eczema,
gastroesophageal reflux,
gene n.d.
|
02-
WmU-N/
10-1
|
n.a.
|
postnatal
|
PBL
|
n.a.
|
Microcephaly-capillary
malformation syndrome (gene STAMBP in 2p13.1)
|
{764}
|
02-
WmU-N/
11-1
|
male
|
1y
|
PBL
|
n.a.
|
Epilepsy,
generalized, with febrile seizures plus,
type 7
(gene SCN9A in 2q24.3)
|
{841}
case 449
|
02-
WmU-N/
12-1
|
female
|
postnatal
|
PBL
|
n.a.
|
Congenital
myasthenia syndrome (gene GFPT1 in 2p13.3)
|
{846;
1244}
|
02-
WmU-N/
13-1
|
male
|
postnatal
|
PBL
|
n.a.
|
arthrogryposis
multiplex congenita and myopathy without
cardiac involvement (gene TTN in 2q31.2)
|
{966}
|
02-
WmU-N/
14-1
|
male
|
3y
|
PBL
|
n.a.
|
Obesity and
developmental delay
(no gene identified - 2 cnadidate genes GPBAR1 and CAPN10)
|
{973}
|
02-
WmU-N/
15-1
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
{982}
|
02-
WmU-N/
16-1
|
female
|
postnatal =
after TOP
|
after TOP
from umbil. cord
|
46,XX
|
fetal
akinesia syndrome (gene
CHRNG in 2q37.1)
|
{1075}
|
02-
WmU-N/
17-1
|
female
|
6y
|
PBL
|
n.a.
|
Ribose-5-phosphate
isomerase deficiency (gene
RPIA in 2p11.2)
|
{1189}
|
02-
WmU-N/
18-1
|
female
|
6m
|
PBL
|
n.a.
|
Congenital
myasthenic syndrome 22 (gene PREPL
in 2p21) |
{1196}
|
02-
WmU-N/
19-1
|
n.a.
|
prenatal
|
?AF
|
n.a.
|
Intrauterine
fetal demise, skeletal dysplasia (no gene
identified)
|
{1213}
case V2
|
02-
WmU-N/
20-1
|
n.a.
|
prenatal
|
?AF
|
n.a.
|
Intrauterine
fetal demise, skeletal dysplasia (no gene
identified)
|
{1213} case V2
|
02-
WmU-N/
21-1
|
male
|
postnatal |
PBL
|
n.a.
|
Congenital
myasthenic syndrome-22 (gene PREPL
in 2p21)
|
{1243} patient 1 |
02-
WmU-N/
22-1
|
female
|
21y |
PBL
|
n.a.
|
multisystem
mitochondrial disease (gene MRPL44
in 2q36.1)
|
{1288} |
02-
WmU-N/
23-1
|
male
|
8y |
PBL
|
n.a.
|
Infantile
hypotonia with psychomotor retardation and
characteristic facies (gene UNC80
in 2q34)
|
{1341} |
02-
WmU-N/
24-1
|
female
|
postnatal,
child
|
PBL
|
46,XX
|
Catel-Manzke-syndrome
(gene KYNU in 2q22.2)
|
{1357} |
02-
WmU-N/
25-1
|
n.a.
|
postnatal
|
PBL
|
n.a.
|
n.a.
(no gene identified)
|
{1340} case P6 |
02-
WmU-N/
26-1
|
n.a.
|
postnatal
|
PBL
|
n.a.
|
Warburg Micro
syndrome 1 or Martsolf syndrome 2
(gene RAB3GAP1 in 2q21.3)
|
{1340} case P7 |
02-
WmU-N/
27-1
|
n.a.
|
postnatal
|
PBL
|
n.a.
|
n.a.
(no gene identified)
|
{1340} case P8 |
02-
WmU-N/
28-1
|
male
|
adult
|
PBL
|
n.a.
|
normal male with
spermatogenic failure
(gene INHBB in
2q14.2)
|
{1451; 1452} |
02-
WmU-N/
29-1
|
male
|
~1y
|
PBL
|
n.a.
|
Alström syndrome
(gene ALMS1 in 2p13.1)
|
{1464} |
02-
WmU-N/
30-1
|
female
|
newborn
|
PBL
|
n.a.
|
mitochondrial
disease caused by type 44 oxidative
phosphorylation coupling defect
(gene FASTKD2 in 2q33.3)
|
{1465} |
02-
WmU-N/
31-1
|
n.a.
|
postnatal
|
PBL
|
n.a.
|
multicystic
dysplastic kidney
(no gene identified)
|
{1479}
case 14
|
02-
WmU-N/
32-1
|
male
|
5y
|
PBL
|
46,XY
|
Hyperphosphatemic
familial tumoral calcinosis
(gene GALNT3 in 2q24.3)
|
{1483} |
mosaic cases
case no.
|
gender
|
age at
diagnosis
|
studied
material
|
GTG-banding
result
|
clinical
symptoms
|
reference
|
02-
WmU-N/
mos/
1-1
|
- |
- |
- |
- |
- |
- |
|
mat
UPD-cases with or unclear clinical correlation+
balanced karyotype
|
case no.
|
gender
|
age at diagnosis
|
studied
material
|
GTG-banding result
|
clinical symptoms
|
reference
|
02-
WmU-bal/
2-1
|
male
|
newborn
|
PBL
|
46,XY,i(2)(p10),i(2)(q10)
- (isoUPD)
|
bilateral
ear pits, significant pectus carinatum,
growth retardation
|
{60}
|
|
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
|
final FISH
result of the sSMC
|
FISH
methods
|
clinical
symptoms
|
reference
|
02-
WmU-sSMC/
1-1
|
02-
Ud-2
|
female/
prenatal
|
fibroblasts
|
47,XX,+r[70%],
46,XX[30%]
|
see below
|
NGS
UPD test
|
multiple
malformations
TOP
|
{0}
provided by Prof. Zuffardi, Italy
|
seq[GRCh37]
+r(2)(::q11.1→q11.2:
:q32.2→q36.3::)
chr2:g.[cen_95326171_97556545:
:191545235_230273236inv]add
maternal
hetero/ isodisomy at 2p24.3p14, 2q11.2q12.3
and 2q36.3q37.2
|
|
segmental
mat UPD-cases with or unclear clinical correlation
|
case no.
|
gender
|
age at diagnosis
|
studied
material
|
GTG-banding result
|
clinical symptoms
|
reference
|
02-
WmU-seg/
1-1
|
female |
newborn
|
PBL
|
n.a.
|
congenital disorders of
glycosylation (CDG)
|
{1241}
|
mosaic cases
case no.
|
gender
|
age at
diagnosis
|
studied
material
|
GTG-banding
result
|
clinical
symptoms
|
reference
|
02-
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
|
clinical symptoms
|
reference
|
02-
WmU-imb/
1-1
|
male
|
prenatal
|
AF,
placenta
|
placenta:
47,XX,+2/46,XX
AF: 46,XX
|
IUGR;
hypospdias, oligohydramnion; child too small
for gestational age born in week 36,
oxidatove stress and dead 2 h after birth
|
{203}
|
02-
WmU-imb/
1-2
|
male
|
pre- and
postnatal
|
AF,
placenta
|
placenta:
47,XY,+2/46,XY
AF: 46,XY
|
IUGR; growth
retradation; otherwise normal
|
{204}
|
02-
WmU-imb/
1-3
|
female
|
pre- and
postnatal
|
AF,
placenta, skin
|
placenta,
CH, AF: 47,XX,+2/46,XX
PBL, skin:
46,XX
|
IUGR; growth
retradation; multiple minor malformations
|
{375}
{386}
case 2
|
02-
WmU-imb/
1-4
|
female
|
pre- and
postnatal
|
AF,
placenta, skin
|
placenta,
CH, AF: 47,XX,+2/46,XX
PBL, skin:
46,XX
|
IUGR; growth
retradation; multiple minor malformations,
normal development at 6 months
|
{386}
case 1
|
02-
WmU-imb/
1-5
|
female
|
prenatal
|
AF
|
47,XX,+2[~12-15%]/
46,XX[~85-88%]
|
lethal
junction epidermolysis bullosa (gene
ITGA6 in 2q31.1)
|
{1158}
|
02-
WmU-imb/
1-6
|
n.a.
|
prenatal
|
PBL
|
47,XN,+2
acc. to NIPT
|
TOP
|
{1389} case 102
|
02-
WmU-imb/
1-7
|
n.a.
|
prenatal
|
PBL
|
47,XN,+2
acc. to NIPT and in placenta karyotype
46,Xn in fetus
|
IUGR,
oligohydramnion; fetl death
|
{1508} |
mosaic cases
case no.
|
gender
|
age at
diagnosis
|
studied
material
|
GTG-banding
result
|
clinical
symptoms
|
reference
|
02-
WmU-imb/
mos/
1-1
|
-
|
- |
- |
- |
- |
- |
|
|
|