tl_files/tiny_templates/Bilder TL/Header-UPD.jpg

CASES WITH UNIPARENTAL DISOMY
- maternal UPD 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 karyotype

 
 

UPD-cases without clinical findings + sSMC

UPD-cases with or unclear clinical correlation + sSMC

 
 

UPD-cases without clinical findings
+ other imbalances

UPD-cases with or unclear clinical correlation + other imbalances

 
 

Segmental UPD-cases without
clinical findings

Segmental UPD-cases with or
unclear clinical correlation

 
      

 


References

mat UPD cases without clinical findings and normal karyotype

 

NO REPORTS YET

 


References

mat UPD cases without clinical findings and balanced karyotype

 

NO REPORTS YET

 


References

mat UPD cases without clinical findings and sSMC

 

NO REPORTS YET

 


References

mat UPD cases without clinical findings and other imbalances

 

NO REPORTS YET

 


References

mat segmental UPD cases without clinical findings

 

NO REPORTS YET

 


References

mat UPD cases with clinical findings or unclear correlation and normal karyotype

 

large review on PWS cases see {754}; PWS due to UPD have a high risk of psychosis {829}; Risperidone is indicated in case of psychotic symptoms mainly associated with uniparental disomy {927}; tretment options of PWS see {928}; food related problems are less severe in PWS with mUPD compared to those with del(15)(q11.2q11.2); still in mUPD caused PWS females have more food related problems than males {930}

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  15-
WmU-
N/1-1
to 7
n.a. n.a. PBL 46 PWS {110, 367} overall 7 cases  
  15-
WmU-
N/1-8
to 24
male and female n.a. PBL 46 PWS {126} 17 cases  
  15-
WmU-
N/1-25
to 32
male and female n.a. PBL n.a. PWS {185} cases 1-8  
  15-
WmU-
N/1-33
to 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 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 70
n.a. n.a. n.a. n.a. PWS {273} 10 cases  
  15-
WmU-
N/1-71
to 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 85
n.a. postnatal PBL 46,XN PWS {281} 6 cases  
  15-
WmU-
N/1-86
to 114
male and female postnatal PBL 46,XN PWS {303} 29 cases  
  15-
WmU-
N/1-115
to 118
n.a. postnatal PBL 46,XN PWS {305} 4 cases  
  15-
WmU-
N/1-116
to 129
n.a. postnatal PBL 46,XN PWS {309} 14 cases  
  15-
WmU-
N/1-130
to 133
2 male and 2 female postnatal PBL 46,XN PWS {310} 4 cases  
  15-
WmU-
N/1-134
to 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 139
n.a. postnatal PBL n.a. PWS {124} 3 cases  
  15-
WmU-
N/1-140
to 144
n.a. postnatal PBL n.a. PWS {356} 5 cases  
  15-
WmU-
N/1-145
to 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 174
n.a. adult PBL n.a. PWS {376} 4 cases  
  15-
WmU-
N/1-175
to 177
n.a. postnatal PBL 46,XN PWS {392} 3 cases  
  15-
WmU-
N/1-178
to 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 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 209
n.a. postnatal PBL n.a. PWS {524} 4 cases  
  15-
WmU-
N/1-210
to 362
n.a. postnatal PBL n.a. PWS {531-533; 566} 152 cases  
  15-
WmU-
N/1-363
to 378
n.a. postnatal PBL n.a. PWS {535} 16 cases  
  15-
WmU-
N/1-379
to 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 423
n.a. postnatal PBL 46,XN PWS {550} 34 cases; most likely 15 cases from Ref {628; 918} included here  
  15-
WmU-
N/1-423
to 443
n.a. postnatal PBL 46,XN PWS {551; 552; 765} 20 cases  
  15-
WmU-
N/1-444
to 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 507
female postnatal PBL n.a. PWS {586} 19 female cases  
  15-
WmU-
N/ 1-508
to 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 525
n.a. postnatal PBL n.a. PWS {588} 2 cases  
  15-
WmU-
N/1-526
to 531
n.a. postnatal PBL n.a. PWS {589} 6 cases  
  15-
WmU-
N/1-532

to 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 598
n.a. postnatal PBL n.a. PWS {591; 592} 18 cases  
  15-
WmU-
N/1-599
to 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 610
n.a. postnatal PBL n.a. PWS {598} 6 cases  
  15-
WmU-
N/1-611
to 630
n.a. postnatal PBL n.a. PWS {600} 19 cases  
  15-
WmU-
N/1-631
to 636
n.a. postnatal PBL n.a. PWS {607} 6 cases  
  15-
WmU-
N/1-637
to 680
n.a. postnatal PBL n.a. PWS {615} 44 cases  
  15-
WmU-
N/ 1-681
to 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 694
n.a. prenatal to 15y PBL n.a. PWS {619} cases 26-32  
  15-
WmU-
N/1-695
to 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 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/1-875
female postnatal PBL 46,XX (heteromorphism on one chr. 15) PWS {347} case 1  
  15-
WmU-
N/1-876 to 889
n.a. postnatal PBL n.a. PWS {765} 14 cases  
  15-
WmU-
N/1-890
n.a. postnatal PBL n.a. PWS {768}  
  15-
WmU-
N/1-891 to 899
n.a. postnatal PBL n.a. PWS {771} 9 cases  
  15-
WmU-
N/1-900 to 907
n.a. postnatal PBL n.a. PWS {776} 8 cases  
  15-
WmU-
N/1-908 to 935
n.a. postnatal PBL n.a. PWS {783} 27 cases  
  15-
WmU-
N/1-936 to 948
n.a. postnatal PBL n.a. PWS {814} 13 cases  
  15-
WmU-
N/1-949 to 960
n.a. postnatal PBL n.a. PWS {825} 12 cases  
  15-
WmU-
N/1-961 to 968
male postnatal PBL n.a. PWS {836} 8 cases  
  15-
WmU-
N/1-969 to 973
female postnatal PBL n.a. PWS {836} 5 cases  
  15-
WmU-
N/1-974 to 979
n.a. postnatal PBL n.a. PWS {828} 6 cases  
  15-
WmU-
N/1-980 to 996
n.a. postnatal PBL n.a. PWS {845} 17 cases  
  15-
WmU-
N/1-997 to 1020
n.a. postnatal PBL n.a. PWS {860} 24 cases  
  15-
WmU-
N/1-1021 to 1-1044
n.a. postnatal PBL n.a. PWS {863} 22 cases  
  15-
WmU-
N/1-1045
n.a. prenatal NIPT n.a. PWS {880} case 2  
  15-
WmU-
N/1-1046
n.a. postnatal PBL 46,XN PWS {910} 1 case  
  15-
WmU-
N/1-1047 to 1-1067
n.a. postnatal PBL n.a. PWS {918} 21  cases  
  15-
WmU-
N/1068 to 1110
n.a. postnatal PBL n.a. PWS {921} 43 cases  
  15-
WmU-
N/1-1111 to 1-1133
n.a. postnatal PBL n.a. PWS {930} 23 cases  
  15-
WmU-
N/1-1134 to 1-1135
female postnatal PBL n.a. PWS {934} 2 cases  
  15-
WmU-
N/1-1136
female 4y PBL n.a. PWS {936}  
  15-
WmU-
N/1-1137
male 4y PBL n.a. PWS {945}  
  15-
WmU-
N/1-1138 to 1-1163
male and female children and adult PBL n.a. PWS {979} 26 cases  
  15-
WmU-
N/1-1164 to 1-1252
male and female children and adult PBL n.a. PWS {986} 89 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
female ~2y PBL
skin
46,XX,9qh+,15ps+
mosaic for cells with and without UPD
PWS {218}  
  15-
WmU-
N/4-1
male newborn PBL 46,XY PWS and Bloom syndrome (gene RECQL3 in 15q26.1)
{387}  
  15-
WmU-
N/5-1
female postnatal PBL n.a.
mosaic UPD (most cells with UPD) - as based on aCGH result
PWS {725} case 2
 
  15-
WmU-
N/5-2
female prental PBL n.a.
mosaic UPD (85-90% with UPD)- as based on aCGH result
PWS {725} case 1
 
  15-
WmU-
N/5-3
male 18y PBL 46,XY
mosaic iUPD - as based on aCGH result (55-60% of PBL)
PWS {816}  
  15-
WmU-
N/5-4
female 2y PBL n.a.
mosaic iUPD - as based on aCGH result (40% of PBL)
IUGR, SGA, Microsomia in relative macrocephaly, disproportion between Neurocranium and Splanchnocranium {968} case 3  
  15-
WmU-
N/5-5
female 17y PBL 46,XX
UPD detected by SNP-array (50%)
PWS mild {905}  
  15-
WmU-
N/6-1
to 6-4
n.a. n.a. n.a. n.a. n.a. {982}  
                 

 


References

mat UPD cases with clinical findings or unclear correlation and balanced karyotype

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
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/
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 an 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/
4-1
male prenatal AF 46,XY,t(2;15)(p11;q11.2)mat prenatal test due to advanced maternal age, 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  
                 

 


References

mat UPD cases with clinical findings or unclear correlation and 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-
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  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-)
mat UPD 15
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-
sSMC/

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)(pterq11.1:) cenM; subcenM PWS {28}  
  15-
WmU-
sSMC/

5-2
15-P-q11.1/
1-2
female/
13y
PBL 47,XX,+mar[100%] min(15)(pterq11.2:) 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; advanced maternal age - pregnancy continued {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)(pterq11: :q13pter)* 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  
                     

 


References

mat UPD cases with clinical findings or unclear correlation and other imbalances

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
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/
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
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%]
Intrauterine growth restriction (IUGR), Congenital chylothorax, Patent ductus arteriosus (PDA), ventricular septal defects (VSDs), Atrial thrombus, Cholestasis, Hypothyroidism {896} case 5  
  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) PWS 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}  
                 

 


References

mat segmental UPD cases with or unclear clinical correlation

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
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}