 |
 |
-
CHROMOSOME 1 -
- maternal UPD -
| case no. |
gender |
age at diagnosis |
studied material |
GTG-banding result |
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 |
clinical
symptoms |
reference |
| 01- OmU-N/ mos/ 1-1 |
- | - | - | - | - | - |
| case no. |
gender |
age at diagnosis |
studied material |
GTG-banding result |
clinical symptoms |
reference |
|
01- OmU-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- OmU-sSMC/ 1-1 |
- | - | - | - | - | - | - | - |
| case no. |
gender |
age at diagnosis |
studied material |
GTG-banding result |
clinical symptoms |
reference |
| 01- OmU-seg/ / 1-1 |
- | - | - | - | - | - |
mosaic cases
| case no. |
gender |
age at
diagnosis |
studied material |
GTG-banding
result |
clinical
symptoms |
reference |
| 01- OmU-seg/ / mos/ 1-1 |
- | - | - | - | - | - |
| case no. |
gender |
age at diagnosis |
studied material |
GTG-banding result |
clinical symptoms |
reference |
|
OmU-imb/ 1-1 |
- | - | - | - | - | - |
mosaic cases
| case no. |
gender |
age at
diagnosis |
studied material |
GTG-banding
result |
clinical
symptoms |
reference |
|
01- OmU-imb/ mos/ 1-1 |
- | - | - | - | - | - |
| case no. |
gender |
age at diagnosis |
studied material |
GTG-banding result |
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/ 17-2 |
n.a. |
prenatal |
AF |
n.a. |
iUPD (gene not identified) |
{1604} case 1 in App. 2 |
| 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} |
| 01- WmU-N/ 20-2 |
n.a. |
postnatal |
PBL |
n.a. |
Leber Congenital Amaurosis (gene RPE65 in 1p31.3) | {1510} case 19 |
| 01- WmU-N/ 21-1 |
n.a. | postnatal |
PBL |
n.a. | craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 (CFSMR1) (gene TMCO1 in 1q24.1) | {1393} case P1 |
| 01- WmU-N/ 22-1 |
female | ~1y |
PBL |
n.a. | early infantile epileptic encephalopathy (EIEE) and cortical visual impairment (gene DOCK7 in 1p31.3) | {1409} |
| 01- WmU-N/ 23-1 |
female | ~4y |
PBL |
n.a. | congenital muscular dystrophie (gene B3GALNT2 in 1q42.3) | {1425} |
| 01- WmU-N/ 24-1 |
female | 4m |
PBL |
n.a. | uncombable hair syndrome (gene PADI3 in 1p36.13) | {1459} |
| 01- WmU-N/ 25-1 |
female | 3y |
PBL |
n.a. | NAXE-related mitochondrial encephalopathy (gene NAXE in 1q22) | {1581} |
mosaic cases
| case no. |
gender |
age at
diagnosis |
studied material |
GTG-banding
result |
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 |
| case no. |
gender |
age at diagnosis |
studied material |
GTG-banding result |
clinical symptoms |
reference |
| 01- WmU-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- WmU-sSMC/ 1-1 |
01- W-p21.1/ 1-1 |
female/ 6y |
PBL |
47,XX,+mar[14]/ 46,XX[26] |
r(1)(::p21.1→q12::) |
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 |
| case no. |
gender |
age at diagnosis |
studied material |
GTG-banding result |
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- p36.22 1-1 |
n.a. |
prenatal |
n.a. |
in CVS
terminal del 1p --- 1pter to 1p36.22 |
n.a. |
{1604} case 1 in App. 4 |
| 01- WmU-seg- p31.3 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- p13.1/ 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- q21.1 1-1 |
female |
newborn | PBL | n.a. --- 1q21.1 to 1qter |
congenital
factor V deficiency (gene F5 in 1q24.2) |
{1414} 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 |
clinical
symptoms |
reference |
| 01- WmU-seg- / mos/ 1-1 |
- |
- |
- |
- |
- |
- |
| case no. |
gender |
age at diagnosis |
studied material |
GTG-banding result |
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 |
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 |