 |
 |
-
CHROMOSOME 1 -
- paternal UPD -
| case no. |
gender |
age at diagnosis |
studied material |
GTG-banding result |
clinical symptoms |
reference |
| 01- OpU-N/ 1-1 |
male |
22y |
PBL |
46,XY[71]/ 46,XY,1qh+,1qh+[29] |
normal male
detected by chance by RH-D factor
determination |
{271}
case 1 |
| 01- OpU-N/ 1-2 |
female |
23y |
PBL |
46,XX |
normal
female detected by chance by RH-D factor
determination |
{271}
case 2 |
| 01- OpU-N/ 1-3 |
n.a. |
child |
PBL |
n.a. |
normal
person detected by chance during paternity
test |
{578} |
| 01- OpU-N/ 2-1 |
n.a. |
n.a. |
PBL |
46,XN |
normal
person detected by chance during screening
for schizophrenia locus |
{72} 1
case |
mosaic cases
| case no. |
gender |
age at
diagnosis |
studied material |
GTG-banding
result |
clinical
symptoms |
reference |
| 01- OpU-N/ mos/ 1-1 |
- | - | - | - | - | - |
| case no. |
gender |
age at diagnosis |
studied material |
GTG-banding result |
clinical symptoms |
reference |
|
01- OpU-bal/ 1-1 |
- | - | - | - | - | - |
| 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- OpU-sSMC/ 1-1 |
- |
- |
- |
- |
- |
- |
- |
- |
| case no. |
gender |
age at diagnosis |
studied material |
GTG-banding result |
clinical symptoms |
reference |
| 01- OpU-seg/ / 1-1 |
- | - | - | - | - | - |
mosaic cases
| case no. |
gender |
age at
diagnosis |
studied material |
GTG-banding
result |
clinical
symptoms |
reference |
| 01- OpU-seg/ / mos/ 1-1 |
- | - | - | - | - | - |
| case no. |
gender |
age at diagnosis |
studied material |
GTG-banding result |
clinical symptoms |
reference |
|
OpU-imb/ 1-1 |
- | - | - | - | - | - |
mosaic cases
| case no. |
gender |
age at
diagnosis |
studied material |
GTG-banding
result |
clinical
symptoms |
reference |
|
01- OpU-imb/ mos/ 1-1 |
- | - | - | - | - | - |
| case no. |
gender |
age at diagnosis |
studied material |
GTG-banding result |
clinical symptoms |
reference |
| 01- WpU-N/ 1-1 |
male |
newborn |
PBL |
46,XY |
pycnodysostosis
(gene CTSK in 1q21.3) |
{65} |
| 01- WpU-N/ 2-1 |
female |
2m |
PBL |
n.a. |
epidermolysis
bullosa, junctional, Herlitz type (gene LAMC2 in 1q25.3) |
{66} |
| 01- WpU-N/ 3-1 |
male |
2y |
PBL |
46,XY |
congenital
insensitivity to pain with anhidrosis (gene
CIPA in 1q23.1) |
{67; 223} |
| 01- WpU-N/ 4-1 |
female |
2y |
PBL |
n.a. |
Usher
syndrome type II with retinitis pigmentosa
(gene USH2A in 1q41) |
{68} |
| 01- WpU-N/ 5-1 |
male |
51y |
PBL |
46,XY |
retinal
dystrophy (gene RPE65 in 1p31.1) |
{69; 511} |
| 01- WpU-N/ 5-2 |
n.a. |
postnatal |
PBL |
n.a. |
retinal
dystrophy (gene RPE65 in 1p31.1) |
{1510} case 8 |
| 01- WpU-N/ 6-1 |
female |
4m |
PBL |
n.a. |
fumarase
deficiency (gene FH in 1q43)
|
{73} |
| 01- WpU-N/ 7-1 |
female |
15y |
PBL |
n.a. |
Stargardt
disease 1 (gene ABCA4 in 1p22.1) |
{74} |
| 01- WpU-N/ 7-2 |
n.a. |
postnatal |
PBL |
n.a. |
Stargardt
disease 1 (gene ABCA4 in 1p22.1) and Parkinson disease (gene PARK7 in 1p36.23) |
{1340} case P3 |
| 01- WpU-N/ 8-1 |
male |
1.5y |
PBL |
46,XY |
Charcot-Marie-Tooth
1B (gene MPZ in 1q23.3)
and Gaucher disease Type III (gene GBA in 1q22) |
{75} |
| 01- WpU-N/ 9-1 |
n.a. |
1y |
PBL |
46,XN |
susceptibility
to atypical hemolytic uremic syndrome 2
(gene CD46 in 1q32.2)
|
{181} |
| 01- WpU-N/ 10-1 |
male |
8m |
PBL |
46,XY |
Chediak-Higashi
syndrome (gene CHS1 in 1q42.3) |
{546} |
| 01- WpU-N/ 11-1 |
male |
newborn |
PBL |
n.a. |
rhizomelic
chrondrodysplasia punctata type 2 (gene GNPAT in 1q42.2) |
{571} |
| 01- WpU-N/ 12-1 |
n.a. |
6m |
PBL |
n.a. |
complement
factor H deficiency and endocapillary
glomerulonephritis (gene HF1 in 1q31.3)
|
{601;
781} |
| 01- WpU-N/ 12-2 |
male |
9m |
PBL |
n.a. |
complement
factor H deficiency and endocapillary
glomerulonephritis (gene HF1 in 1q31.3)
|
{781} |
| 01- WpU-N/ 13-1 |
n.a. |
6y |
PBL |
n.a. |
neonatal
seizures, extreme hypotonia, profound MR,
extreme cortical blindness. (iso UPD 1 -
gene not identified) |
{619}
case 2 |
| 01- WpU-N/ 14-1 |
male |
26y |
PBL |
n.a. |
morbid
obesity due to leptin receptor deficiency
(gene LEPR in 1p31.3) |
{722} |
| 01- WpU-N/ 15-1 |
female |
6y |
PBL |
n.a. |
camptodactyly-arthropathy-coxa
vara-pericarditis syndrome (gene PRG4 in 1q31.1) |
{752}
patient 4 |
| 01- WpU-N/ 16-1 |
n.a. |
postnatal |
PBL |
n.a. |
see below |
{763}
case 258370 |
| Short
attention span, moderately short stature,
joint hypermobility, impaired T cell
function, IgG deficiency, slow-growing hair,
high anterior hairline, abnormality of the
nasal tip, abnormality of the skeletal
system, hypermetropia |
||||||
| 01- WpU-N/ 17-1 |
n.a. |
postnatal |
PBL |
n.a. |
infantile
hypophosphatasia (gene ALPL in 1p36.12) |
{779} |
| 01- WpU-N/ 18-1 |
n.a. |
postnatal |
PBL |
n.a. |
3-hydroxy-3-methylglutaryl-CoA
lyase deficiency (gene HMGCL in 1p36.11) |
{873} |
| 01- WpU-N/ 19-1 |
n.a. |
postnatal |
PBL |
n.a. |
Kabuki
syndrome (gene RAP1 gene in
1p36.12) |
{911} |
| 01- WpU-N/ 20-1 |
female |
19m |
PBL |
n.a. |
infantile
neuronal ceroid lipofuscinosis (gene PPT1 in 1p34.2) |
{954;
981} |
| 01- WpU-N/ 20-2 |
n.a. |
5y |
PBL |
n.a. |
infantile
neuronal ceroid lipofuscinosis (gene PPT1 in 1p34.2) |
{980} |
| 01- WpU-N/ 21-1 to 21-2 |
n.a. |
n.a. |
n.a. |
n.a. |
n.a. |
{982} |
| 01- WpU-N/ 22-1 |
female |
3y |
PBL |
n.a. |
Dihydropyrimidine
dehydrogenase deficiency (gene DPYD in 1p21.3) |
{1085} |
| 01- WpU-N/ 23-1 |
male |
15y |
PBL |
n.a. |
neurdevelopmental
disorder (gene SZT2 in 1p34.2) |
{1125} |
| 01- WpU-N/ 24-1 |
male |
18y |
PBL |
n.a. |
glycogen
storage disease type III (gene AGL
in 1p21.2) |
{1146} |
| 01- WpU-N/ 24-2 |
female |
1.5y |
PBL |
n.a. |
glycogen
storage disease type III (gene AGL
in 1p21.2) |
{1159}
case 1 |
| 01- WpU-N/ 25-1 |
n.a. |
postnatal |
PBL |
n.a. |
Mild ID,
epilepsy, attention deficit–hyperactivity disorder, clumsy walking; no gene identified (iUPD) |
{1213}
case V1 |
| 01- WpU-N/ 26-1 |
male |
6y |
PBL |
n.a. |
Steroid-resistant nephrotic syndrome (gene NPHS2 in 1q25.2) unclear if segmental or whole chr. |
{1220}
patient 5 |
| 01- WpU-N/ 27-1 |
female |
4y |
PBL |
n.a. |
glycogen
storage disease type III (gene AGL
in 1p21.2) and Usher syndrome type II with retinitis pigmentosa (gene USH2A in 1q41) |
{1332} |
| 01- WpU-N/ 28-1 |
n.a. |
postnatal | PBL |
n.a. | autosomal recessive early-onset form of Parkinson’s disease (gene PARK7 in 1p36.23) | {1333; 1359} |
| 01- WpU-N/ 29-1 |
n.a. |
postnatal | PBL |
n.a. |
Mitochondrial
DNA depletion syndrome 7 (gene HMGCS2 in 1p12) |
{1368} patient 2 |
| 01- WpU-N/ 30-1 |
female |
newborn |
PBL |
46,XX |
epidermolysis
bullosa, junctional, Herlitz type (gene LAMB3 in 1q32.2) |
{70} |
| 01- WpU-N/ 31-1 |
female |
9y |
PBL |
n.a. |
Stargardt
disease 1 (gene ABCA4 in 1p22.1) and Usher syndrome type II with retinitis pigmentosa (gene USH2A in 1q41) |
{1398} |
| 01- WpU-N/ 32-1 |
male |
2y |
PBL |
46,XY | no gene
mutataed identified in WGS; chld with DD |
{1403} |
| 01- WpU-N/ 33-1 |
male |
8m | PBL |
n.a. |
muscle-eye-brain
disease (gene POMGNT1 in 1p34.1) |
{1482} |
| 01- WpU-N/ 33-1 |
male |
newborn |
PBL |
n.a. |
epileptic
encephalopathy (gene KCTD3 in 1q41) |
{1489} |
| 01- WpU-N/ 34-1 |
female |
postnatal |
PBL |
n.a. |
neurodevelopmental
disorder, cerebellar atrophy, and seizures (gene PIGK in 1p31.1) |
{1597} |
mosaic cases
| case no. |
gender |
age at
diagnosis |
studied material |
GTG-banding
result |
clinical
symptoms |
reference |
| 01- WpU-N/ mos/ 1-1 |
- | - | - | - | - | - |
| case no. |
gender |
age at diagnosis |
studied material |
GTG-banding result |
clinical symptoms |
reference |
| 01- WpU-bal/ 1-1 |
female |
43y |
PBL |
46,XX,i(1)(p10),i(1)(q10) |
see below |
{71} |
| minor
facial anomalies, myopathy, sterility,
short stature, hearing loss, downward
slant of palpebral fissures, bilateral
ptosis, severe micro/retrognathia, high
arched palate, and scoliosis |
||||||
| 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- WpU-sSMC/ 1-1 |
- | - | - | - | - | - | - | - |
| case no. |
gender |
age at diagnosis |
studied material |
GTG-banding result |
clinical symptoms |
reference |
| 01- WpU-seg/ pter/ 1-1 |
male |
'prenatal' |
fetal
tissue |
46,XY --- 1pter to 1p21 |
infantile
hypophosphatasia (gene ALPL in
1p36.12), TOP |
{369} |
| 01- WpU-seg/ pter/ 2-1 |
female |
15y |
PBL |
46,XX --- 1pter to 1p34 and 1q24.1 to 1qter |
Hypomyelinating
leukodystrophy 2 (gene GJC2 in 1q42.13) |
{372} |
| 01- WpU-seg/ pter/ 3-1 |
n.a. |
prenatal |
AF |
n.a. --- 1pter to 1p36.31 only SNP-array |
nephronophthisis
(gene NPHP4 n 1p36.31) |
{1346} case 5 |
| 01- WpU-seg/ p22.3/ 1-1 |
n.a. |
n.a. |
PBL |
n.a. --- 1p22.3 to 1q23.3 |
juvenile
hemochromatosis type 2a (gene HJV in 1q21.1) |
{801} |
| 01- WpU-seg/ p21/ 1-1 |
female |
2y |
PBL |
46,XX –-- 1p21 to 1p13 |
Stargardt
disease 1 (gene ABCA4 in 1p22.1) |
{300} |
| 01- WpU-seg/ q31.3/ 1-1 |
n.a. |
postnatal |
PBL |
n.a. --- 1q31.3; 73MB |
Leber
congenital amaurosis 8 (gene CRB1 in 1q31.3) |
{501} |
mosaic cases
| case no. |
gender |
age at
diagnosis |
studied material |
GTG-banding
result |
clinical
symptoms |
reference |
| 01- WpU-seg/ / mos/ 1-1 |
- | - | - | - | - | - |
| case no. |
gender |
age at diagnosis |
studied material |
GTG-banding result |
clinical symptoms |
reference |
| 01- WpU-imb/ 1-1 |
- | - | - | - | - | - |
mosaic cases
| case no. |
gender |
age at
diagnosis |
studied material |
GTG-banding
result |
clinical
symptoms |
reference |
| 01- WpU-imb/ mos/ 1-1 |
- | - | - | - | - | - |