ChromosOmics - Database


                                     Icon by Leon Liehr   

                                                     - CHROMOSOME 2 -                                                    
- maternal  UPD -

UPD unclear if maternal or paternal
 CHR . 2

UPD PATERNAL
 CHR . 2
UPD-cases without clinical findings
+ normal karyotype

UPD-cases with or unclear clinical
correlation + normal karyotype
UPD-cases without clinical findings
+ balanced karotype
UPD-cases with or unclear clinical
correlation
+ balanced karotype
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
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
- - - - - -