ChromosOmics - Database


Icon by Leon Liehr             

                                                     - CHROMOSOME 15 -                                                    
- maternal  UPD -

UPD unclear if maternal or paternal
 CHR . 15

UPD PATERNAL
 CHR . 15
UPD-cases without clinical findings
+ normal karyotype
UPD-cases with or unclear clinical
correlation + normal karyotype
UPD-cases without clinical findings
+ balanced karyotype
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
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
- - - - - -


mat UPD-cases without clinical findings + balanced karyotype

case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
15-
OmU-bal/
1-1

- - - - - -


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
15-
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
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
- - - - - -


mat UPD-cases without clinical findings + other imbalances

case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
15-
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

- - - - - -


mat UPD-cases with or unclear clinical correlation + normal karyotype

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/
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}

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}


mat UPD-cases with or unclear clinical correlation+ balanced karyotype

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


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
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}


segmental mat UPD-cases with or unclear clinical correlation

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
- - - - - -


mat UPD-cases with or unclear clinical correlation + other imbalances

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/
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

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
15-
WmU-imb/
mos/
1-1

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