ChromosOmics - Database

                                                     - 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
grade of mosaicism

clinical symptoms
reference
15-
OmU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

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
grade of mosaicism

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
grade of mosaicism

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
grade of mosaicism

clinical symptoms
reference
15-
OmU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

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
grade of mosaicism

clinical symptoms
reference
15-
OmU-imb/

1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

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

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

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/
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


mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

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