 |
 |
-
CHROMOSOME 15 -
- maternal UPD -
| case no. |
gender |
age at diagnosis |
studied material |
GTG-banding result |
clinical symptoms |
reference |
|
15- OmU-N/ 1-1 |
- | - | - | - | - | - |
mosaic cases
| case no. |
gender |
age at
diagnosis |
studied material |
GTG-banding
result |
clinical
symptoms |
reference |
| 15- OmU-N/ mos/ 1-1 |
- | - | - | - | - | - |
| case no. |
gender |
age at diagnosis |
studied material |
GTG-banding result |
clinical symptoms |
reference |
|
15- 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 |
|
15- OmU-sSMC/ 1-1 |
- | - | - | - | - | - | - | - |
| case no. |
gender |
age at diagnosis |
studied material |
GTG-banding result |
clinical symptoms |
reference |
| 15- OmU-seg/ / 1-1 |
- | - | - | - | - | - |
mosaic cases
| case no. |
gender |
age at
diagnosis |
studied material |
GTG-banding
result |
clinical
symptoms |
reference |
| 15- 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 |
|
15- OmU-imb/ mos/ 1-1 |
- | - | - | - | - | - |
In {1261} study on genetic subtype-phenotype analysis of growth hormone treatment on psychiatric behavior in Prader-Willi syndrome (PWS).
in {1322} a SNRPN gene mutation is suggested as reason for PWS
Prader-Willi-syndrome (PWS) can now be identified by help of facial diagnostic, supported by computer aid {1472}
| case no. |
gender |
age at diagnosis |
studied material |
GTG-banding result |
clinical symptoms |
reference |
| 15- WmU-N/ 1-1 to 1-7 |
n.a. |
n.a. |
PBL |
46 |
PWS |
{110,
367} overall 7 cases |
| 15- WmU-N/ 1-8 to 1-24 |
male and
female |
n.a. |
PBL |
46 |
PWS |
{126} 17
cases |
| 15- WmU-N/ 1-25 to 1-32 |
male and
female |
n.a. |
PBL |
n.a. |
PWS |
{185}
cases 1-8 |
| 15- WmU-N/ 1-33 to 1-44 |
male and
female |
n.a. |
PBL |
n.a. |
PWS |
{242} 12
cases |
| 15- WmU-N/ 1-45 |
male |
prenatal |
AF |
46,XY |
PWS; TOP |
{247} |
| 15- WmU-N/ 1-46 |
male |
6y |
PBL |
46,XY |
PWS |
{248}
case 2 |
| 15- WmU-N/ 1-47 |
male |
prenatal |
AF, CH |
46,XY |
PWS |
{251}
case 1 |
| 15- WmU-N/ 1-48 to 1-59 |
male and
female |
postnatal |
PBL |
n.a. |
PWS |
{258} 18
cases; PW 25 and PW 27 published also in
{523} |
| 15- WmU-N/ 1-60 |
female |
1y |
PBL |
46,XX |
PWS |
{272}
case 1 |
| 15- WmU-N/ 1-61 to 1-70 |
n.a. |
n.a. |
n.a. |
n.a. |
PWS |
{273} 10
cases |
| 15- WmU-N/ 1-71 to 1-78 |
5 male and
3 female |
postnatal |
PBL |
n.a. |
PWS |
{274} 8
cases, possibly included in -cases
15-WmU-N/390 to 1-423 |
| 15- WmU-N/ 1-79 |
male |
postnatal |
PBL |
46,XY |
PWS |
{277}
case 2 |
| 15- WmU-N/ 1-80 to 1-85 |
n.a. |
postnatal |
PBL |
46,XN |
PWS |
{281} 6
cases |
| 15- WmU-N/ 1-86 to 1-114 |
male and
female |
postnatal |
PBL |
46,XN |
PWS |
{303} 29
cases |
| 15- WmU-N/ 1-115 to 1-118 |
n.a. |
postnatal |
PBL |
46,XN |
PWS |
{305} 4
cases |
| 15- WmU-N/ 1-116 to 1-129 |
n.a. |
postnatal |
PBL |
46,XN |
PWS |
{309} 14
cases |
| 15- WmU-N/ 1-130 to 1-133 |
2 male and
2 female |
postnatal |
PBL |
46,XN |
PWS |
{310} 4
cases |
| 15- WmU-N/ 1-134 to 1-135 |
n.a. |
postnatal |
PBL |
46,XN |
PWS |
{316} 2
cases |
| 15- WmU-N/ 1-136 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{348}
family 2 |
| 15- WmU-N/ 1-137 to 1-139 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{124} 3
cases |
| 15- WmU-N/ 1-140 to 1-144 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{356} 5
cases |
| 15- WmU-N/ 1-145 to 1-168 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{363} 24
cases |
| 15- WmU-N/ 1-169 |
female |
3y |
PBL |
46,XX |
PWS |
{112} |
| 15- WmU-N/ 1-170 |
male |
1y |
PBL |
46,XY |
PWS |
{193}
case 33, {194} |
| 15- WmU-N/ 1-171 to 1-174 |
n.a. |
adult |
PBL |
n.a. |
PWS |
{376} 4
cases |
| 15- WmU-N/ 1-175 to 1-177 |
n.a. |
postnatal |
PBL |
46,XN |
PWS |
{392} 3
cases |
| 15- WmU-N/ 1-178 to 1-180 |
female |
postnatal |
PBL |
46,XX |
PWS |
{414} 3
cases |
| 15- WmU-N/ 1-181 |
n.a. |
n.a. |
n.a. |
n.a. |
PWS |
{460} |
| 15- WmU-N/ 1-182 to 1-206 |
n.a. |
n.a. |
n.a. |
n.a. |
PWS |
{475} |
| 15- WmU-N/ 1-207 |
male |
postnatal |
PBL |
n.a. |
PWS |
{523} 1
case |
| 15- WmU-N/ 1-208 to 1-209 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{524} 4
cases |
| 15- WmU-N/ 1-210 to 1-362 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{531-533;
566} 152 cases |
| 15- WmU-N/ 1-363 to 1-378 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{535} 16
cases |
| 15- WmU-N/ 1-379 to 1-387 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{536} 9
cases |
| 15- WmU-N/ 1-388 |
n.a. |
3.5y |
PBL |
n.a. |
PWS |
{0} case
provided by Dr. H-G Klein/ Martinsried,
Germany |
| 15- WmU-N/ 1-389 |
n.a. |
postnatal |
PBL |
46,XN |
PWS |
{0} case
provided by Dr. A Polityko, Minsk, Belarus |
| 15- WmU-N/ 1-390 to 1-423 |
n.a. |
postnatal |
PBL |
46,XN |
PWS |
{550} 34
cases; most likely 15 cases from Ref {628;
918, 1176} included here |
| 15- WmU-N/ 1-423 to 1-443 |
n.a. |
postnatal |
PBL |
46,XN |
PWS |
{551;
552; 765} 20 cases |
| 15- WmU-N/ 1-444 to 1-487 |
n.a. |
postnatal |
PBL |
46,XN |
PWS |
{561;
562; 620} 44 cases |
| 15- WmU-N/ 1-488 |
female |
4y |
PBL |
n.a. |
PWS |
{585} |
| 15- WmU-N/ 1-489 to 1-507 |
female |
postnatal |
PBL |
n.a. |
PWS |
{586} 19
female cases |
| 15- WmU-N/ 1-508 to 1-522 |
male |
4y |
PBL |
n.a. |
PWS |
{586} 15
male cases |
| 15- WmU-N/ 1-523 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{587} |
| 15- WmU-N/ 1-524 to 1-525 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{588} 2
cases |
| 15- WmU-N/ 1-526 to 1-531 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{589} 6 cases |
| 15- WmU-N/ 1-532 to 1-580 |
26 male, 23
female |
postnatal |
PBL |
n.a. |
PWS |
{590} 32
partially overlapping cases with 49 cases
from {599} - overall 49 cases counted |
| 15- WmU-N/ 1-581 to 1-598 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{591;
592} 18 cases |
| 15- WmU-N/ 1-599 to 1-602 |
3 male, 1
female |
postnatal |
PBL |
n.a. |
PWS |
{594} 4
cases |
| 15- WmU-N/ 1-603 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{348;
597} fam F1 |
| 15- WmU-N/ 1-604 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{349,
597} 1 case |
| 15- WmU-N/ 1-605 to 1-610 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{598} 6
cases |
| 15-WmU-N/ 1-611 to 1-630 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{600} 19
cases |
| 15- WmU-N/ 1-631 to 1-636 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{607} 6
cases |
| 15- WmU-N/ 1-637 to 1-680 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{615} 44
cases |
| 15- WmU-N/ 1-681 to 1-685 |
4 male, 1
female |
postnatal |
PBL |
n.a. |
PWS |
{618} 5
cases |
| 15- WmU-N/ 1-686 |
n.a. |
9y |
PBL |
n.a. |
PWS
(iso-UPD 15) |
{619}
case 13 |
| 15- WmU-N/ 1-687 to 1-694 |
n.a. |
prenatal to
15y |
PBL |
n.a. |
PWS |
{619}
cases 26-32 |
| 15- WmU-N/ 1-695 to 1-699 |
n.a. |
postnatal |
PBL |
n.a. |
PWS - 5/7
cases being ART and having PWS |
{626} 5
cases possibly included in -cases 15-WmU-N/390 to 1-423 {637} |
| 15- WmU-N/ 1-700 to 1-704 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{627} 5
cases |
| 15- WmU-N/ 1-705 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{641} 1
case |
| 15- WmU-N/ 1-706 to 1-730 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{642} 25
cases |
| 15- WmU-N/ 1-731 |
female |
postnatal |
PBL |
n.a. |
PWS |
{644} |
| 15- WmU-N/ 1-732 to 1-764 |
female and
male |
postnatal |
PBL |
n.a. |
PWS |
{653} |
| 15- WmU-N/ 1-765 to 1-771 |
female and
male |
postnatal |
PBL |
n.a. |
PWS |
{657} |
| 15- WmU-N/ 1-772 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{660} 1
case - other 7 cases see {110} |
| 15- WmU-N/ 1-773 to 1-778 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{667} |
| 15- WmU-N/ 1-779 to 1-797 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{669} 19
cases |
| 15- WmU-N/ 1-797 to 1-805 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{668} 8
cases |
| 15- WmU-N/ 1-806 to 1-827 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{685} 21
cases |
| 15- WmU-N/ 1-828 to 1-831 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{687} 4
cases |
| 15- WmU-N/ 1-832 to 1-839 |
6 female/ 2
male |
postnatal |
PBL |
46,XN |
PWS |
{697} 8
cases |
| 15- WmU-N/ 1-840 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
705} |
| 15- WmU-N/ 1-841 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{706;
776; 921} |
| 15- WmU-N/ 1-842 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{727} |
| 15- WmU-N/ 1-843 to 1-854 |
3 male/ 8 female |
postnatal |
PBL |
n.a. |
PWS |
{735} 11
cases |
| 15- WmU-N/ 1-855 to 1-864 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{739} 10
cases |
| 15- WmU-N/ 1-865 to 1-870 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{744} 6
cases |
| 15- WmU-N/ 1-871 to 1-873 |
n.a. |
postnatal |
PBL |
46,XN |
PWS (iUPD) |
{745 and
746} |
| 15- WmU-N/ 1-874 to 1-878 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{753} 5
cases |
| 15- WmU-N/ 1-879 |
female | postnatal |
PBL |
46,XX
(heteromorphism on one chr. 15) |
PWS |
{347}
case 1 |
| 15- WmU-N/ 1-880 to 1-893 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{765} 14
cases |
| 15- WmU-N/ 1-894 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{768} |
| 15- WmU-N/ 1-895 to 1-903 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{771} 9
cases |
| 15- WmU- N/1-904 to 1-909 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{776} 8
cases |
| 15- WmU-N/ 1-910 to 1-937 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{783} 27
cases |
| 15- WmU-N/ 1-938 to 1-950 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{814} 13
cases |
| 15- WmU-N/ 1-951 to 1-962 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{825} 12
cases |
| 15- WmU-N/ 1-963 to 1-970 |
male |
postnatal |
PBL |
n.a. |
PWS |
{836} 8
cases |
| 15- WmU-N/ 1-971 to 1-975 |
female |
postnatal |
PBL |
n.a. |
PWS |
{836} 5
cases |
| 15- WmU-N/ 1-976 to 1-981 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{828} 6
cases |
| 15- WmU-N/ 1-982 to 1-998 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{845} 17
cases |
| 15- WmU-N/ 1-999 to 1-1022 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{860} 24
cases |
| 15- WmU-N/ 1-1023 to 1-1046 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{863} 22
cases |
| 15- WmU-N/ 1-1047 |
n.a. |
prenatal |
NIPT |
n.a. |
PWS |
{880}
case 2 |
| 15- WmU-N/ 1-1048 |
n.a. |
postnatal |
PBL |
46,XN |
PWS |
{910} 1
case |
| 15- WmU-N/ 1-1049 to 1-1069 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{918, 1176} 21 cases |
| 15- WmU-N/ 1070 to 1-1112 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{921} 43
cases |
| 15- WmU-N/ 1-1113 to 1-1135 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{930} 23
cases |
| 15- WmU-N/ 1-1136 to 1-1137 |
female |
postnatal |
PBL |
n.a. |
PWS |
{934} 2
cases |
| 15- WmU-N/ 1-1138 |
female |
4y |
PBL |
n.a. |
PWS |
{936} |
| 15- WmU-N/ 1-1139 |
male |
4y |
PBL |
n.a. |
PWS |
{945} |
| 15- WmU-N/ 1-1140 to 1-1165 |
male and
female |
children
and adult |
PBL |
n.a. |
PWS |
{979} 26
cases |
| 15- WmU-N/ 1-1166 to 1-1255 |
male and
female |
children
and adult |
PBL |
n.a. |
PWS |
{986} 89
cases |
| 15- WmU-N/ 1-1256 to 1-1267 |
male and
female |
children |
PBL |
n.a | PWS |
{1004} 13
cases |
| WmU-N/ 1-1268 to 1-1275 |
male and
female |
children |
PBL |
n.a. |
PWS
|
{1006} 8
cases |
| 15- WmU-N/ 1-1276 to 1-1280 |
male and
female |
children |
PBL |
n.a. |
PWS
|
{1008} 5
cases |
| 15- WmU-N/ 1-1281 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{1010} 1
case |
| 15- WmU-N/ 1-1282 to 1-1356 |
male and
female |
postnatal |
PBL |
n.a. |
PWS |
{1015} 55
cases |
| 15- WmU-N/ 1-1357 to 1-1386 |
male and
female |
postnatal |
PBL |
n.a. |
PWS |
{1018} 29
cases |
| 15- WmU-N/ 1-1387 to 1-1388 |
n.a. |
postnatal |
PBL |
n.a. |
PWS | {1019} 2
cases |
| 15- WmU-N/ 1-1389 |
female |
9m |
PBL |
46,XX |
PWS |
{1020} |
| 15- WmU-N/ 1-1390 to 1-1400 |
male and
female |
postnatal |
PBL |
n.a. |
PWS |
{1040} 11
cases |
| 15- WmU-N/ 1-1401 to 1-1419 |
male and
female |
postnatal |
PBL |
n.a. |
PWS |
{1051} 19
cases |
| 15- WmU-N/ 1-1420 to 1-1427 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{1060} 8
cases |
| 15- WmU-N/ 1-1428 |
n.a. |
2y |
PBL |
n.a. |
PWS |
{1080} p4 |
| 15- WmU-N/ 1-1429 to 1-1480 |
male |
postnatal |
PBL from Rare Diseases Clinical Research Network (RDCRN) PWS registry |
n.a. |
PWS |
{1092} 52
cases - most likely same cases in
{1094/1095} |
| 15- WmU-N/ 1-1481 to 1-1555 |
female |
postnatal |
PBL from Rare Diseases Clinical Research Network (RDCRN) PWS registry |
n.a. |
PWS |
{1092} 75 cases - most likely same cases in {1094/1095} |
| 15- WmU-N/ 1-1556 to 1-1582 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{1139} 27 cases |
| 15- WmU-N/ 1-1583 |
male |
newborn |
PBL |
46,XY | PWS |
{1141} |
| 15- WmU-N/ 1-1584 |
n.a. |
postnatal |
PBL |
n.a. | PWS |
{1151} |
| 15- WmU-N/ 1-1585 to 1-1589 |
n.a. |
postnatal |
PBL |
n.a. | PWS |
{1167} 5 cases |
| 15- WmU-N/ 1-1590 |
n.a. |
postnatal |
PBL |
n.a. | PWS |
{1173} 1 case |
| 15- WmU-N/ 1-1591 |
n.a. |
postnatal |
PBL | n.a. | PWS |
{1326} 1 case |
| 15- WmU-N/ 1-1592 to 1-1600 |
n.a. |
postnatal |
PBL |
n.a. | PWS |
{1197} 9 cases |
| 15- WmU-N/ 1-1601 to 1-1623 |
n.a. |
postnatal |
PBL |
n.a. | PWS |
{1198} 23 cases |
| 15- WmU-N/ 1-1624 |
n.a. |
postnatal |
PBL |
n.a. |
PWS | {1203} 1
case |
| 15- WmU-N/ 1-1625 to 1-1631 |
n.a. |
postnatal |
PBL |
n.a. | PWS |
{1208} 7 cases |
| 15- WmU-N/ 1-1632 |
n.a. |
prenatal |
AF |
n.a. | PWS |
{1211} 1 case |
| 15- WmU-N/ 1-1633 |
n.a. |
postnatal |
PBL |
n.a. | PWS Severe ID, speech delay, myopia, scoliosis (iUPD) |
{1213} case V6 |
| 15- WmU-N/ 1-1634 to 1-1640 |
n.a. |
postnatal |
PBL |
n.a. | PWS |
{1223} 7 cases |
| 15- WmU-N/ 1-1641 |
n.a. |
postnatal |
PBL |
n.a. | PWS |
{1245} |
| 15- WmU-N/ 1-1642 to 1-1698 |
n.a. |
postnatal |
PBL |
n.a. | PWS |
{1261} 57 cases |
| 15- WmU-N/ 1-1699 |
n.a. |
prenatal |
free placenta DNA | n.a. | PWS |
{1264} |
| 15- WmU-N/ 1-1700 to 1702 |
n.a. |
postnatal |
PBL | n.a. | PWS phenotype like SRS in 2/3 cases |
{1266} 3 cases |
| 15- WmU-N/ 1-1703 to 1713 |
n.a. |
postnatal |
PBL | n.a. | PWS |
{1268} 11 cases |
| 15- WmU-N/ 1-1714 to 1715 |
male and
female |
prenatal |
PBL | 46,XY 46,XX |
PWS |
{1289} cases 5 & 6 |
| 15- WmU-N/ 1-1716 to 1721 |
n.a. |
postnatal |
PBL | n.a. | PWS |
{1296} 6 cases |
| 15- WmU-N/ 1-1722 to 1738 |
n.a. |
postnatal |
PBL | n.a. | PWS |
{1299} 16 cases |
| 15- WmU-N/ 1-1739 to 1748 |
n.a. |
postnatal |
PBL | n.a. | PWS |
{1316} 10 cases |
| 15- WmU-N/ 1-1749 to 1750 |
n.a. |
postnatal |
PBL | 46,XN | PWS |
{1327} 2 cases |
| 15- WmU-N/ 1-1751 to 1770 |
n.a. |
postnatal |
PBL | n.a. | PWS |
{1331} 19 cases |
| 15- WmU-N/ 1-1771 to 1783 |
n.a. |
postnatal |
PBL | n.a. | PWS |
{1336} 13 cases |
| 15- WmU-N/ 1-1784 to 1789 |
n.a. |
postnatal |
PBL | n.a. | PWS |
{1337} 6 cases |
| 15- WmU-N/ 1-1790 to 1791 |
male |
postnatal |
PBL | 46,XY | PWS |
{1354} cases p14, p21 |
| 15- WmU-N/ 1-1792 to 1793 |
n.a. |
postnatal |
PBL | n.a. | PWS |
{1340} cases P12, P13 |
| 15- WmU-N/ 1-1794 to 1812 |
n.a. |
postnatal |
PBL | 46,XN | PWS |
{1378} 19 cases |
| 15- WmU-N/ 1-1813 to 1814 |
n.a. |
prenatal |
AF | n.a. | PWS |
{1404} 2 cases |
| 15- WmU-N/ 1-1815 |
n.a. |
postnatal |
PBL | n.a. | PWS |
{1408} 1 case |
| 15- WmU-N/ 1-1816 to 1-1861 |
n.a. |
postnatal |
PBL | n.a. | PWS |
{1421} 46 cases |
| 15- WmU-N/ 1-1862 to 1-1880 |
n.a. |
postnatal |
PBL | n.a. |
PWS |
{1437} 19 cases |
| 15- WmU-N/ 1-1881 |
female |
1m |
PBL | n.a. |
PWS |
{1448} case 4 |
| 15- WmU-N/ 1-1882 |
n.a. |
postnatal | PBL | n.a. |
PWS |
{1461} 1 case |
| 15- WmU-N/ 1-1883 to 1-1886 |
n.a. |
postnatal |
PBL | n.a. |
PWS |
{1462} 4 cases |
| 15- WmU-N/ 1-1887 to 1-1942 |
n.a. |
postnatal |
PBL | n.a. |
PWS |
{1468} 56 cases |
| 15- WmU-N/ 1-1943 |
n.a. |
prenatal |
AF | n.a. |
PWS |
{1469} 1
case |
| 15- WmU-N/ 1-1944 to 1-1998 |
n.a. |
postnatal |
PBL | n.a. |
PWS |
{1473} 55
cases |
| 15- WmU-N/ 1-1999 to 2007 |
n.a. |
postnatal |
PBL | n.a. |
PWS |
{1486} 9 cases |
| 15- WmU-N/ 1-2008 to 2068 |
n.a. |
postnatal |
PBL | n.a. |
PWS |
{1486} 61
cases |
| 15- WmU-N/ 1-2069 |
n.a. |
prenatal |
AF | n.a. |
PWS |
{1516} 1 case |
| 15- WmU-N/ 1-2070 to 1-2134 |
n.a. |
postnatal |
PBL | n.a. |
PWS |
{1526} 64 case |
| 15- WmU-N/ 1-2135 to 1-2137 |
male female |
prenatal |
AF | 46,XY 46,XX |
PWS TOP |
{1528} cases 12, 19, 24 |
| 15- WmU-N/ 1-2138 |
n.a. |
postnatal |
PBL | n.a. |
PWS |
{1516} 1
case |
| 15- WmU-N/ 1-2139 |
n.a. |
postnatal |
PBL | n.a. |
PWS |
{1545} |
| 15- WmU-N/ 1-2140 to 1-2163 |
n.a. |
postnatal |
PBL | n.a. |
PWS |
{1552} 23 cases |
| 15- WmU-N/ 1-2164 to 1-2180 |
n.a. |
postnatal |
PBL | n.a. |
PWS |
{1554} 16 cases |
| 15- WmU-N/ 1-2181 to 1-2196 |
n.a. |
postnatal |
PBL | n.a. |
PWS |
{1557} 15 cases |
| 15- WmU-N/ 1-2197 to 1-2205 |
n.a. |
postnatal |
PBL | n.a. |
PWS |
{1569} 19 cases |
| 15- WmU-N/ 1-2206 to 1-2218 |
n.a. |
postnatal |
PBL | n.a. |
PWS |
{1574} 13 cases |
| 15- WmU-N/ 1-2219 to 1-2257 |
n.a. |
postnatal |
PBL | n.a. |
PWS |
{1588} 49 cases |
| 15- WmU-N/ 1-2258 to 1-2259 |
n.a. |
postnatal |
PBL | n.a. |
PWS |
{1590} 2 cases |
| 15- WmU-N/ 1-2260 to 1-2265 |
n.a. |
postnatal |
PBL | n.a. |
PWS |
{1591} 6 cases |
| 15- WmU-N/ 1-2266 to 1-2267 |
n.a. |
postnatal |
PBL | n.a. |
PWS |
{1603} cases 15 and 19 |
| 15- WmU-N/ 1-2268 to 1-2269 |
n.a. |
prenatal postnatal |
AF PBL |
n.a. |
PWS |
{1604} cases 1 and 2 in App. 3 |
| 15- WmU-N/ 1-2270 to 1-2325 |
n.a. |
postnatal |
PBL |
n.a. |
PWS |
{1605} 56 cases |
| 15- WmU-N/ 2-1 |
n.a. |
postnatal |
PBL |
46,XN |
n.a. in
detail; clinically abnormal |
{163}
case 29 |
| 15- WmU-N/ 2-2 |
n.a. |
prenatal |
AF |
46,XN |
n.a. |
{190} 1
case |
| 15- WmU-N/ 3-1 |
male |
newborn |
PBL |
46,XY |
PWS and
Bloom syndrome (gene RECQL3 in
15q26.1) |
{387} |
| 15- WmU-N/ 4-1 to 4-4 |
n.a. |
n.a. |
n.a. |
n.a. |
n.a. |
{982} |
| 15- WmU-N/ 5-1 |
n.a. |
postnatal |
PBL |
n.a. |
details n.a. found in a cohort of children with inborn heart disease heterodisomy |
{1066} |
| 15- WmU-N/ 6-1 |
female |
8y |
PBL |
n.a. |
PWS and congenital ichthyosis (gene CERS3 in 15q26.3) | {1100} |
| 15- WmU-N/ 6-2 |
female |
29y |
PBL |
n.a. |
PWS and congenital ichthyosis (gene CERS3 in 15q26.3) | {1274} |
| 15- WmU-N/ 7-1 |
n.a. |
postnatal |
PBL |
n.a. | PWS and CMT (gene POLG in 15q26.1) | {1173} 1 case {1340} case P11 |
| 15- WmU-N/ 8-1 |
male |
12y |
PBL |
n.a. | PWS and hereditary spastic paraplegia type 11 (gene SPG11 in 15q21.1) | {1504} |
| 15- WmU-N/ 9-1 |
female |
2y |
PBL |
46,XX | PWS and calpainopathy (gene CAPN3 in 15q15.1) | {1561} |
| 15- WmU-N/ 10-1 |
male |
5y |
PBL |
n.a. | PWS and isovaleric acidemia (gene IVD in 15q15.1) |
{1598} case 2 |
mosaic cases
| case no. |
gender |
age at
diagnosis |
studied material |
GTG-banding
result |
clinical
symptoms |
reference |
| 15- WmU-N/ mos/ 1-1 |
female |
~2y |
PBL skin |
46,XX,9qh+,15ps+ mosaic for cells with and without UPD |
PWS |
{218} |
| 15- WmU-N/ mos/ 1-2 |
female |
postnatal |
PBL |
n.a. mosaic UPD (most cells with UPD) - as based on aCGH result |
PWS |
{725} case
2 |
| 15- WmU-N/ mos/ 1-3 |
female |
prenatal |
PBL |
n.a. mosaic UPD (85-90% with UPD)- as based on aCGH result |
PWS |
{725} case
1 |
| 15- WmU-N/ mos/ 1-4 |
male |
18y |
PBL |
46,XY mosaic iUPD - as based on aCGH result (55-60% of PBL) |
PWS |
{816} |
| 15- WmU-N/ mos/ 1-5 |
female |
2y |
PBL |
n.a. mosaic iUPD - as based on aCGH result (40% of PBL) |
IUGR, SGA,
microsomia and relative macrocephaly,
disproportion between neurocranium and
splanchnocranium |
{968} case
3 |
| 15- WmU-N/ mos/ 1-6 |
female |
17y | PBL |
46,XX UPD detected by SNP-array (50%) |
PWS mild |
{905} |
| case no. |
gender |
age at diagnosis |
studied material |
GTG-banding result |
clinical symptoms |
reference |
| 15- WmU-bal/ 1-1 |
male |
postnatal |
PBL |
45,XY,der(13;15)(q10;q10)mat |
PWS |
{277}
case 1 |
| 15- WmU-bal/ 1-2 |
male |
postnatal |
PBL |
45,XY,der(13;15)(q10;q10)mat |
PWS |
{331} {414} case PWS23 |
| 15- WmU-bal/ 1-3 |
female |
newborn |
PBL |
45,XX,der(13;15)(q10;q10)mat |
PWS |
{1179}
case 2 |
| 15- WmU-bal/ 2-1 |
male |
39y |
PBL |
45,XY,der(14;15)(q10;q10) |
PWS |
{347}
case 2 |
| 15- WmU-bal/ 2-2 |
female |
33y |
PBL |
45,XY,der(14;15)(q10;q10) |
PWS |
{414}
case PWS21 |
| 15- WmU-bal/ 2-3 |
sister and
brother |
postnatal |
PBL |
45,der(14;15)(q10;q10)mat |
PWS |
{448} |
| 15- WmU-bal/ 2-4 |
male |
postnatal |
PBL |
45,XY,der(14;15)(q10;q10)mat |
PWS |
{670}
case 5 |
| 15- WmU-bal/ 3-1 to 3-2 |
male and
female |
postnatal |
PBL |
45,der(15;15)(q10;q10) |
PWS |
{408}
cases 39, 40; {440} cases 1 and 2, {441}
cases 4 and 16 |
| 15- WmU-bal/ 3-3 |
n.a. |
prenatal |
AF |
45,der(15;15)(q10;q10) |
PWS |
{417} 1
case |
| 15- WmU-bal/ 3-4 |
female |
postnatal |
PBL |
45,XX,der(15;15)(q10;q10) |
PWS |
{449} |
| 15- WmU-bal/ 3-5 |
female |
17y |
PBL |
45,XX,der(15;15)(q10;q10)[15]/ 46,XX[35] |
PWS-like
|
{743} |
| 15- WmU-bal/ 3-6 |
XX-male |
child |
PBL |
45,XX,der(15;15)(q10;q10) |
PWS
|
{1178} |
| 15- WmU-bal/ 3-7 |
female |
newborn |
PBL |
45,XX,der(15;15)(q10;q10)[15] |
PWS |
{1179}
case 3 |
| 15- WmU-bal/ 3-8 |
male |
postnatal |
PBL |
45,XY,der(15;15)(q10;q10)mat |
PWS |
{1180} |
| 15- WmU-bal/ 3-9 |
n.a. |
postnatal | PBL |
45,der(15;15)(q10;q10)[15] |
PWS
|
{1181} |
| 15- WmU-bal/ 3-10 |
n.a. |
postnatal | PBL |
45,der(15;15)(q10;q10)[15] |
PWS
|
{1182} |
| 15- WmU-bal/ 3-11 to 3-12 |
female and
male |
postnatal | PBL |
45,XN,der(15;15)(q10;q10)[15] |
PWS
|
{1183} 2
cases |
| 15- WmU-bal/ 3-13 to 3-15 |
n.a. |
postnatal | PBL |
45,der(15;15)(q10;q10)[15] |
PWS
|
{1184} 3
cases |
| 15- WmU-bal/ 3-16 |
male |
postnatal |
PBL |
45,XY,der(15;15)(q10;q10)mat |
PWS |
{1185} |
| 15- WmU-bal/ 3-17 |
n.a. |
postnatal | PBL |
45,der(15;15)(q10;q10) |
PWS
|
{1186} 1
case |
| 15- WmU-bal/ 3-18 |
n.a. |
postnatal | PBL |
45,der(15;15)(q10;q10) |
PWS
|
{304} 1
case |
| 15- WmU-bal/ 3-19 |
n.a. |
postnatal | PBL |
45,der(15;15)(q10;q10) |
PWS
|
{1186} |
| 15- WmU-bal/ 4-1 |
male |
prenatal |
AF |
46,XY,t(2;15)(p11;q11.2)mat |
AMA, TOP |
{54} |
| 15- WmU-bal/ 5-1 |
female |
3y |
AF |
46,XY,t(8;15)(q24.1;q21.2)mat |
PWS |
{55} |
| 15- WmU-bal/ 6-1 |
male |
2y |
PBL |
46,XY,t(3;21)(p13;p11.2)mat |
PWS |
{82} |
| 15- WmU-bal/ 7-1 |
n.a. |
postnatal |
PBL |
45,XX,der(6)t(6;15)(p25.3;q11.1)pat,-15 pat chr. 15 is suggested to have a microdeletion in PWS region |
PWS |
{412} 1
case |
| 15- WmU-bal/ 8-1 |
n.a. |
postnatal |
PBL |
45,XX,t(?;15) data not freely available |
PWS |
{1557} 1 case |
| 15- WmU-bal/ 9-1 |
n.a. |
prenatal | blastocyst |
45,der(15;21)(q10;q10) |
PWS
|
{1577} 1 case |
| 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 |
| 15- WmU-sSMC/ 1-1 |
15-W- q11.1 ~13/ 1-1 |
male/ 1 w |
PBL |
47,XY,+mar[16%]/ 46,XY[84%] |
r(15)(::p11.1→ q11.1~q13::) |
all cep; SNRPN; D15Z4 |
see below |
{20} |
| result of an
in vitro fertilization procedure;
intrauterine growth retardation was detected
by ultrasound; and fetal movements in the
low range. Birth was induced at 35 weeks
because of fetal distress. Apgar score 1 at
1 min and 8 at 5 min; birth weight 1.290 kg;
generalized hypotonia both testes were
palpated in the inguinal region and were
surgically reduced, the penis was small. At
that time he weighed 2.490 kg and the mother
complained of feeding difficulties. walking
at 3 years; first words at[nbsp] 3.5 years,
excessive eating started at 3 years, his
weight at 3.5 years was 18 kg (>97%) and
his height was 93 cm (50%). facial
appearance was typical for Prader-Will
syndrome (PWS); |
||||||||
| 15- WmU-sSMC/ 2-1 |
15-P-2 |
female/ 9m |
PBL |
47,XX,+r(?)[50%]/ 46,XX[50%] |
mar(X) |
different
FISH probes: (wcp X) |
PWS |
{21} case
2 |
| 15- WmU-sSMC/ 3-1 |
15-P-3 |
female/ postnatal |
PBL |
47,XX,+mar[25%]/ 46,XX[75%] |
mar(15).ish
(15Z1+, pTRA-25+,D15S18-) |
different
FISH probes: (wcp 15, cep 15 - see left field) |
PWS |
{22} 1
case |
| 15- WmU-sSMC/ 3-2 |
15-P-4 |
male/
postnatal |
PBL |
47,XY,+mar[25]/ 46,XY[5] |
mar(15).ish
(15Z1+,SNRPN-) |
SNRPN,
UPD-test |
PWS |
{670} case 3 |
| 15- WmU-sSMC/ 3-3 |
15-P-5 |
female/
postnatal |
PBL |
47,XX,+mar[26]/ 46,XX[4] |
mar(15).ish
(15Z1+,SNRPN-) mat UPD 15 |
SNRPN,
UPD-test |
PWS |
{670} case 4 |
| 15- WmU-SMC/ 4-1 |
15-P-q11/ 1-2 |
male/ 12y |
PBL |
47,XY,+inv
dup(15)(q11)[70%]/ 46,XY[30%] |
n.a. |
n.a. |
PWS |
{23} case
2 |
| 15- WmU-sSMC/ 4-2 |
15-P-q11/ 1-4 |
male/ 26y |
PBL |
47,XX,+inv
dup(15)(q11)[100]* |
inv
dup (15)(q11) |
n.a. |
PWS |
{24; 25} |
| 15- WmU-sSMC/ 4-3 |
15-P-q11/ 1-5 |
male/ 33y |
PBL |
47,XY,+inv
dup(15)(q11)[24]/ 46,XY[29] |
inv
dup (15)(q11) |
centromeric
probe 15 and 6 single copy probes from 15q11
to 15q13 |
PWS |
{26} case
WJK303 |
| 15- WmU-sSMC/ 4-4 |
15-P-q11/ 1-13 |
female/ prenatal |
PBL |
47,XX,+inv
dup(15)(q11)[100%] |
inv
dup(15)(q11) |
cep probes
wcp 15, PWS specific probes |
PWS |
{27} case
4 |
| 15- WmU-sSMC/ 4-5 |
15-P-q11/ 1-14 |
female/ 17y |
PBL |
47,XX,+mar[70%]/ 46,XX[30%] |
inv
dup(15)(q11) |
cep probes
wcp 15, PWS specific probes |
PWS |
{758} |
| 15- WmU-sSMC/ 5-1 |
15-P-q11.1/ 1-1 |
male/ 1m |
PBL |
47,XY,+mar[70%]/ 46,XY[30%] |
min(15)(pter→q11.1:) |
cenM;
subcenM |
PWS |
{1186} |
| 15- WmU-sSMC/ 5-2 |
15-P-q11.1/ 1-2 |
female/ 13y |
PBL |
47,XX,+mar[100%] |
min(15)(pter→q11.2:) |
cep 15; LSI
SNRPN |
PWS |
{29} |
| 15- WmU-sSMC/ 6-1 |
15-P-q11.1/ 2-2 |
female/ 1m |
PBL |
47,XX,+mar[55%]/ 46,XX[45%] |
inv
dup(15)(q11.1) |
centromeric
probes |
PWS |
{30} |
| 15- WmU-sSMC/ 6-2 to 3 |
15-P-q11.1/ 2-4 to 2-5 |
n.a./ prenatal |
AF |
47,+mar[?%]/ 46[?%] |
inv
dup(15)(q11.1)* |
centromeric
probes ? |
PWS |
{421} 2
cases |
| 15- WmU-sSMC/ 6-4 |
15-P-q11.1/ 2-6 |
male/ prenatal |
AF |
47,XY,+mar[39%]/ 46,XY[61?%] |
inv
dup(15)(q11.1)* |
centromeric
probes ? |
PWS, TOP |
{422} |
| 15- WmU-sSMC/ 6-5 |
15-P-q11.1/ 2-7 |
female/ prenatal |
AF |
47,XX,+mar[50%]/ 46,XX[50%] |
inv
dup(15)(q11.1) |
acrocenM,
subcenM; |
AMA, TOP |
{0}
provided by Dr. Kozlowski, Düsseldorf
Germany |
| 15- WmU-sSMC/ 7-1 |
15-P-q11~ 13/ 1-1 |
male/ 29y |
PBL |
47,XY,+mar
[85%]/ 46,XY[15%] |
inv
dup(15)(pter→q11:
:q13→pter)* |
YAC probes
as specified in {57} |
PWS |
{31} case
13 |
| 15- WmU-sSMC/ 7-2a |
15-P- q11.2/ 3-1 |
female/ postnatal |
PBL |
47,XX,inv(13)(q22q34),+mar[3]/ 46,XX,inv(13)(q22q34)[56] |
inv
dup(15)(q11.2) |
SNRPN,
cep15, UPD test |
PWS |
{670}
case 3 |
| 15- WmU-sSMC/ 7-2b |
15-P- q11.2/ 3-2 |
female/ prenatal |
AF |
47,XX,+mar[37]/ 46,XX[7] |
inv
dup(15)(q11.2) |
SNRPN,
cep15, UPD test |
PWS |
{0}
provided by Dr. Ruml, Serbia |
| 15- WmU-sSMC/ 7-3 |
15-P-q11~ 13/ 1-2 |
male/ 1w |
PBL |
47,XY,+mar[16%]/ 46,XY[84%] |
r(15)(::p11.1 →q11.1~q13::) |
all cep; SNRPN; D15Z4 |
PWS |
{612} |
| 15- WmU-sSMC/ 8-1 |
15-P-q12/ 2-3 |
female/ 16m |
PBL |
47,XX,+mar[20%]/46,XX[80%] |
inv
dup(15)(q12~13) FISH-data: SNRPN at 22.8MB on sSMC |
SNRPN;
UPD-test |
PWS |
{451} |
| 15- WmU-sSMC/ 8-2 |
15-P-q12/ 2-4 |
female/ postnatal |
PBL |
47,XX,+mar[3]/46,XX[17] |
inv
dup(15)(q12~13) FISH-data: SNRPN at 22.8MB on sSMC |
SNRPN;
UPD-test |
PWS |
{670}
case 4 |
| 15- WmU-sSMC/ 9-1 |
15-P-4 |
n.a./ postnatal |
PBL |
47,+mar[8%]/ 46[92%] |
inv
dup(15) |
molecular
genetics |
PWS |
{452} |
| 15- WmU-sSMC/ 10-1 |
22-U-40 |
male/ 6y |
PBL |
47,XY,+mar[46]/ 46,XY[54] |
inv
dup(22)(q11.1) |
cep probes |
PWS |
{222} |
| 15- WmU-sSMC/ 11-1 |
15-P-q11.2/ 4-1 |
male/ 17y |
PBL |
47,XY,+mar
mat[100%] |
der(15)t(3;15)(p25;q11.2) |
FISH |
PWS |
{287}
case JB |
| 15- WmU-sSMC/ 12-1 |
+21- U-46 |
female/ prenatal |
AF |
48,XX,+21,+mar[7]/ 47,XX,+21[23] |
del(15)(q11.1) |
cenM/ subcenM |
PWS and
Down-syndrome |
{0}
provided by Dr. Huhle, Leipzig, Germany |
| 15- WmU-sSMC/ 13-1 |
15-P-q13.1 + q13.3/ 1-1 |
male/ 2y |
PBL | 47,XY,+mar[100%] | inv
dup(15)(pter→q13.1: :q13.3→pter) breaks n.a. |
aCGH | PWS and
Down-syndrome |
{1225} |
| 15- WmU-sSMC/ 14-1 |
15- Ud- 12 |
male/ newborn |
PBL | 47,XY,+mar[100%] | del(15)(q12q23) UPD 15 |
aCGH, FISH, UPD-test | PWS |
{1391} |
| case no. |
gender |
age at diagnosis |
studied material |
GTG-banding result |
clinical symptoms |
reference |
| 15- WmU-seg/ q11/ 1-1 |
male |
6 m |
PBL |
46,XY --- 15q11 to 15q13.3 |
PWS |
{275} |
| 15- WmU-seg/ q14/ 1-1 |
male |
newborn |
PBL |
46,XY --- 15q14 to 15q21.1 |
? PWS, as
PWS critical region not involved |
{813} |
| 15- WmU-seg/ q15.1/ 1-1 |
female |
54y |
PBL |
n.a.; no
imbalances in WGS --- 15q15.1 to 15qter |
no PWS but CMT (gene POLG in 15q26.1) | {1164}
case 1 |
mosaic cases
| case no. |
gender |
age at
diagnosis |
studied material |
GTG-banding
result |
clinical
symptoms |
reference |
| 15- WmU-seg/ / mos/ 1-1 |
- | - | - | - | - | - |
| case no. |
gender |
age at diagnosis |
studied material |
GTG-banding result |
clinical symptoms |
reference |
| 15- WmU-imb/ 1-1 |
female |
3y 8m |
PBL |
47,XXX |
PWS |
{122}
case A |
| 15- WmU-imb/ 1-2 |
female |
5y 5m |
PBL |
47,XXX |
PWS |
{122}
case B |
| 15- WmU-imb/ 1-3 |
female |
n.a. |
PBL |
47,XXX |
PWS |
{123} |
| 15- WmU-imb/ 2-1 |
female |
3y |
PBL; fibros |
47,XXX/ 47,XX,+15 |
PWS |
{151} |
| 15- WmU-imb/ 3-1 |
male |
2y |
PBL |
47,XXY |
PWS |
{214} |
| 15- WmU-imb/ 3-2 |
male |
2m |
PBL |
47,XXY |
PWS |
{519} |
| 15- WmU-imb/ 3-3 |
male |
postnatal | PBL |
47,XXY |
PWS |
{1503} 1 case |
| 15- WmU-imb/ 4-1 |
n.a. |
prenatal |
CH; AF; PBL |
47,+15 in
CH; 46 in AF |
PWS |
{125} |
| 15- WmU-imb/ 4-2 |
female |
prenatal |
AF; PBL |
47,XX,+15/46,XX |
PWS, IUGR,
dies at 6 weeks of age |
{268} |
| 15- WmU-imb/ 4-3 |
n.a. |
prenatal |
free fetal
DNA |
47,NX,+15/46,XN |
PWS |
{1023} 1
case |
| 15- WmU-imb/ 4-3 |
male |
21m |
PBL, skin
fibroblasts |
PBL: 46,XY fibros: 47,XY,+15/46,XY |
PWS |
{282} |
| 15- WmU-imb/ 4-4 |
female |
prenatal |
CH |
47,XX,+15/46,XX |
n.a. |
{328} |
| 15- WmU-imb/ 4-5 |
n.a. |
prenatal |
CH |
47,XX,+15/ 46,XX (acc. to mol genet) |
PWS, TOP |
{343} |
| 15- WmU-imb/ 4-6 |
male |
prenatal |
CH; AF |
47,XY,+15
in CH; 46,XY in AF |
PWS |
{409} |
| 15- WmU-imb/ 4-7 |
n.a. |
prenatal |
placenta |
47,+15/46 |
PWS |
{459} |
| 15- WmU-imb/ 4-8 |
n.a. |
prenatal |
placenta |
47,+15/46 |
PWS |
{542} 1
case |
| 15- WmU-imb/ 4-9 |
female |
prenatal |
placenta |
47,XX,+15/46,XX |
PWS, TOP |
{556} case 30 |
| 15- WmU-imb/ 4-10 |
female |
newborn |
PBL |
47,XX,+15[10%]/ 46,XX[90%] |
IUGR,
congenital chylothorax, Patent ductus
arteriosus (PDA), ventricular septal defects
(VSDs), Atrial thrombus, Cholestasis,
Hypothyroidism |
{896}
case 5 |
| 15- WmU-imb/ 4-11 |
male |
1y |
Chorion PBL |
Ch:
47,XY,+15[100%] PBL: 47,XY,+15[?%]/ 46,XY[?%] +15 only by mol genet |
PWS |
{1073} case 3 |
| 15- WmU-imb/ 4-12 |
n.a. |
prenatal |
PBL |
47,XN,+15 acc. to NIPT |
PWS |
{1428} |
| 15- WmU-imb/ 4-13 |
n.a. |
prenatal |
PBL |
47,XN,+15 acc. to NIPT |
PWS |
{1444} case 10 |
| 15- WmU-imb/ 4-14 to 4-15 |
n.a. |
prenatal |
AF |
47,XN,+15/ 46,XN |
PWS |
{1520} cases 1 and 2 |
| 15- WmU-imb/ 4-16 |
female |
prenatal |
AF |
47,XX,+15[26-55%]/ 46,XX[45-74%] |
PWS |
{1524} |
| 15- WmU-imb/ 4-17 |
n.a. |
postnatal |
PBL |
"supernum
chr." |
PWS |
{1604} case 9 in App. 2 |
| 15- WmU-imb/ 5-1 |
female |
postnatal |
PBL |
45,XY,-5,der(5)t(5;15)(q35;q13)pat |
PWS |
{663} |
| 15- WmU-imb/ 6-1 |
male |
postnatal |
PBL |
47,XYY |
PWS |
{809} |
| 15- WmU-imb/ 6-2 |
male |
10y |
PBL |
47,XYY |
PWS |
{844} |
| 15- WmU-imb/ 6-3 |
male |
12y |
PBL |
47,XYY |
PWS |
{978} |
| 15- WmU-imb/ 7-1 |
female |
postnatal |
PBL |
46,X,i(Xq) |
and
Tay-Sachs-disease (gene HEXA in 15q23) |
{840} |
| 15- WmU-imb/ 7-2 |
male |
newborn |
PBL |
46,XY |
PWS and
Tay-Sachs-disease (gene HEXA in 15q23) |
{870} |
| 15- WmU-imb/ 8-1 |
male |
newborn |
PBL |
46,XY in aCGH homozygote del(15)(q15.3q15.3) |
PWS and
iso-UPD 15 thus homozygoute STRC and CATSPER2 deletions |
{1005} |
| 15- WmU-imb/ 9-1 |
n.a. |
prenatal | PBL |
46,XN,+15
acc. FISH from placenta acc. to NIPT dup(15)(q21.2q21.2) |
TOP PWS suggested |
{1389} case 123 |
| 15- WmU-imb/ 10-1 |
female |
1y | PBL |
45,X,der(X)t(X:15)(p22.3;q11.2)mat,-15 |
PWS |
{1407} case 2 |
| 15- WmU-imb/ 11-1 |
female |
newborn | PBL |
46,XX
postnatlly NIPT revealed a high risk of
increased chromosome 15q22.2-q25.3 |
PWS |
{1589} case 1 |
mosaic cases
| case no. |
gender |
age at
diagnosis |
studied material |
GTG-banding
result |
clinical
symptoms |
reference |
| 15- WmU-imb/ mos/ 1-1 |
n.a. | prenatal | AF | 47,XN,+15[60%]/ 46,XN[40%] UPD in 40% |
TOP | {1515} case 2 |