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/
17-2
 female
 postnatal
 PBL
 n.a. Ribose-5-phosphate isomerase deficiency (gene RPIA in 2p11.2)
 {1559} case 3
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/
23-2
 female
 postnatal PBL
 n.a.
   Infantile hypotonia with psychomotor retardation and characteristic facies (gene UNC80 in 2q34)
 {1559} case 4
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/
25-2
 n.a.
 prenatal
 AF
 n.a.
 n.a.
 (no gene identified)
 {1535}
02-
WmU-N/
25-3
 n.a.
 postnatal
 PBL
 n.a.
 n.a.
 (no gene identified)
 {1340} case P8
02-
WmU-N/
25-4 to 25-5
 n.a.
 prenatal
 PBL
 n.a.
 n.a.
 (no gene identified)
 {1340} case P8
02-
WmU-N/
26-1
 n.a.
 postnatal
 PBL
 n.a.
 Warburg Micro syndrome 1 or Martsolf syndrome 2
 (gene RAB3GAP1 in 2q21.3)
 {1604} cases 18 and 19 in App. 2
02-
WmU-N/
27-1
 male
 3y
 PBL
 46,XY
 n.a.
 (no gene identified)
 {1537}
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}
02-
WmU-N/
33-1
 male
 prenatal
 AF
 46,XY DYS
 (no gene identified)
TOP
 {1528} case 20
02-
WmU-N/
34-1
 female
 4y
 PBL
 n.a. neurodevelopmental abnormalities
 (gene SPR in 2p13.2)
 {1534}
02-
WmU-N/
35-1
 female
 postnatal
 PBL
 n.a.
 seizure
 (no gene identified)
 {1559} case 2
02-
WmU-N/
36-1
 male
 4y
 PBL
 n.a.
 severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels
 (gene LPIN1 in 2p25.1)
 {1536}


01-
WmU-N/
17-2
 n.a.
 prenatal
 AF
 n.a.
 iUPD
(gene not identified) 		{1604} case 1 in App. 2


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
 - - - - - -