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

CASES WITH UNIPARENTAL DISOMY
- paternal UPD 11 -

 

      
 

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

pat UPD cases without clinical findings and normal karyotype

 

NO REPORTS YET

 


References

pat UPD cases without clinical findings and balanced karyotype

 

NO REPORTS YET

 


References

pat UPD cases without clinical findings and sSMC

 

NO REPORTS YET

 


References

pat UPD cases without clinical findings and other imbalances

 

NO REPORTS YET

 


References

pat segmental UPD cases without clinical findings

 

NO REPORTS YET

 


References

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

 

review on BWS see {835}; in BWS due to UPD(11)pat developing hyperinsulinaemic hypoglycaemia require near-total pancreatectomy - maybe sirolimus treatment may help as well {939}

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  11-
WpU-N/
1-1 to 1-14
n.a. postnatal PBL n.a. Beckwith-Wiedemann-syndrome (BWS) {129}  
  11-
WpU-N/
1-15 to 18
n.a. postnatal PBL n.a. BWS {139} cases 49-52
{140}
 
  11-
WpU-N/
1-19
n.a. postnatal PBL n.a. BWS {285}  
  11-
WpU-N/
1-20
n.a. postnatal PBL n.a. BWS {610} 1 case  
  11-
WpU-N/
1-21
male postnatal PBL n.a. BWS (and hepatoblastoma) {616}  
  11-
WpU-N/
1-22 to
23
n.a. postnatal PBL n.a. BWS {638}  
  11-
WpU-N/
1-24 to
119
n.a. postnatal PBL n.a. BWS {640} 96 cases; in {679} 41 of those cases
 
  11-
WpU-N/
1-120 to 129
n.a. postnatal PBL n.a. BWS {654; 672} 11 cases  
  11-
WpU-N/
1-120 to 129
n.a. postnatal PBL n.a. BWS {672; 674} 54 cases  
  11-
WpU-N/
1-130 to 132
n.a. postnatal PBL n.a. BWS {766} cases 2-4  
  11-
WpU-N/
1-133 to 213
n.a. postnatal PBL n.a.
unclear if segmental!!
BWS {780} 81 cases  
  11-
WpU-N/
1-214
n.a. postnatal PBL n.a. BWS {804} 1 case  
  11-
WpU-N/
1-215
n.a. postnatal PBL n.a. BWS {808}  
  11-
WpU-N/
1-216 to 350
n.a. postnatal PBL n.a. BWS {835} 135 cases  
  11-
WpU-N/
1-351
n.a. postnatal PBL n.a. BWS {843} 1 case  
  11-
WpU-N/
1-352 to 1-373
n.a. postnatal PBL n.a. BWS {654; 672; 674; 871;943} 22 cases
 
  11-
WpU-N/
1-374 to 1-385
n.a. postnatal PBL n.a. BWS {881} 12 cases  
  11-
WpU-N/
1-386
n.a. postnatal PBL n.a. BWS {889} 1 case  
  11-
WpU-N/
1-387 to 1-395
n.a. postnatal PBL n.a. BWS {969} 9 cases  
  11-
WpU-N/
1-396 to 1-397
n.a. postnatal PBL n.a. BWS {985} 2 cases  
  11-
WpU-N/
2-1
female postnatal PBL 46,XX
acc to mol. genet. result mosaic of cells with and without pat UPD
BWS {157} case 3  
  11-
WpU-N/
2-2
female postnatal PBL; different tissues n.a.
acc to mol. genet. result mosaic of cells with and without pat UPD
BWS {224}  
  11-
WpU-N/
2-3 to 2-4
n.a. postnatal PBL n.a.
10-20% only with UPD
BWS {713} cases KvDMR and H19DMR  
  11-
WpU-N/
2-5
female postnatal PBL n.a.
90% only with UPD
BWS {935} case 21-006  
  11-
WpU-N/
2-6 to 2-11
n.a. postnatal PBL n.a.
mosaic of UPD and normal cells
BWS {955} cases 10-14; 25  
  11-
WpU-N/
3-1
male postnatal PBL n.a.

focal BWS and ß-thalassemia
(gene HBB in 11p15.4)

{84}  
  11-
WpU-N/
4-1 to 4
n.a. postnatal PBL 46,XN
UPD only proven for band 11p15
focal form of neonatal hyperinsulinism (gene ABCC8 in 11p15.1)
{146}  
  11-
WpU-N/
5-1 to 2
n.a. postnatal PBL, tongue

n.a.
UPD11 only in tongue not in blood detected

BWS {794} 2 cases  
  11-
WpU-N/
6-1 to 6-4
n.a. postnatal PBL

n.a.

BWS {947} cases 17, 128, 220, 227b}  
  11-
WpU-N/
7-1
female newborn PBL

n.a.
mosaic iso-UPD

BWS and congenital hyperinsulinism and hemihypertrophy
(gene KCNJ11 in 11p15.1)
{949; 995}  
                 

 


References

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

 

NO REPORTS YET

 


References

pat UPD cases with clinical findings or unclear correlation and sSMC

 

NO REPORTS YET

 


References

pat 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  
  11-
WpU-
imb/
1-1
male prenatal AF, placenta AF: 47,XY,+11/46,XY
placenta: 47,XY,+11
IUGR, TOP {374}  
  11-
WpU-
imb/
2-1
male newborn PBL

46,XY,der(11)(pterq13.4::q13.4q14.3:
:q14.3q13.4::q13.4qter)
UPD(11)seg 11q14.3 to 11qter

DD, growth retardation; DYS {900}  
  11-
WpU-
imb/
3-1
n.a. prenatal AF

46,XN,+3,+7,+8

hydatiform mole {958}  
                 

 


References

pat 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  
  11-
WpU-seg/
1-1 to 10
n.a. postnatal PBL n.a.
-----
pat UPD 11 in LIT tested
BWS {579} 6 cases from 'validation group' and 4 from 'practice group'  
  11-
WpU-seg/
1-11 to 22
n.a. postnatal PBL n.a.
-----
pat UPD 11 in LIT tested in mosaic
BWS {579} 10 cases from 'practice group'  
  11-
WpU-seg/
1-23 to 1-30
n.a. postnatal PBL n.a.
-----
pat UPD 11 (at least in 11p15)
BWS {798} 8 cases  
  11-
WpU-seg/
1-3
1
female 1m PBL n.a.
-----
pat UPD 11 (at least in 11p15)
BWS {939}  
  11-
WpU-seg/
1-32 to 1-59
17 female 11 male postnatal PBL n.a.
-----
seg. pat UPD 11 in mosaic
BWS {935} 28 cases  
  11-WpU-
seg-pter/
1-1 to 2
n.a. postnatal PBL n.a.
-----
11pter to 11p15.5
BWS {139} cases 1-2
{140}
 
  11-WpU-
seg-pter/
1-3 to 4
n.a. postnatal PBL 46,XN
-----
11pter to 11p15.5
BWS {609} cases 6-7  
  11-WpU-
seg-pter/
1-5
n.a. postnatal PBL

n.a.
-----
11pter to 11p15.5
mosaic 50%

BWS {782} case 4  
  11-WpU-
seg-pter/
1-6
n.a. postnatal PBL

n.a.
-----
11pter to 11p15.5
mosaic 16%

BWS {782} case 7
 
  11-WpU-
seg-pter/
1-7
female 16y PBL and fibroa-denoma

n.a.
-----
11pter to 11p15.5

BWS {861}  
  11-WpU-
seg-pter/
2-1 to 12
n.a. postnatal PBL n.a.
-----
11pter to 11p15.4
BWS {139} cases 3-14
{140}
 
  11-WpU-
seg-pter/
2-13
n.a. postnatal PBL n.a.
-----
11pter to 11p15.4
mosaic 24%
BWS {782} case 12  
  11-WpU-
seg-pter/
2-14
n.a. postnatal PBL n.a.
-----
11pter to 11p15.4
mosaic 25%
BWS {782} case 14  
  11-WpU-
seg-pter/
2-15
n.a. postnatal PBL
tongue
n.a.
-----
11pter to 11p15.4
mosaic 47% and 27%
BWS {782} case 16  
  11-WpU-
seg-pter/
2-16
n.a. postnatal PBL n.a.
-----
11pter to 11p15.4
mosaic
BWS {903}
1 case
 
  11-WpU-
seg-pter/
2-17 to 19
n.a. postnatal PBL n.a.
-----
11pter to 11p15.4
mosaic
BWS {955} cases 15, 21, 22
 
  11-WpU-
seg-pter/
2a-1
n.a. postnatal PBL n.a.
-----
11pter to 11p15.3
mosaic
BWS {955} case 16  
  11-WpU-
seg-pter/
2b-1
n.a. postnatal PBL n.a.
-----
11pter to 11p15.2 in mosaic 39%
BWS {782} case 8  
  11-WpU-
seg-pter/
2b-2
n.a. postnatal PBL n.a.
-----
11pter to 11p15.2 in mosaic ?%
BWS {828} 1 case  
  11-WpU-
seg-pter/
2b-3 to 2b-4
n.a. postnatal PBL n.a.
-----
11pter to 11p15.2 in mosaic 50%
BWS {955} cases 1, 17
 
  11-WpU-
seg-pter/
3-1 to 5
n.a. postnatal PBL n.a.
-----
11pter to 11p15.1
BWS {139} cases 15-19
{140}
 
  11-WpU-
seg-pter/
3-6
female postnatal PBL n.a.
-----
11pter to 11p15.1 in mosaic
BWS (less expressed) {221; 555}  
  11-WpU-
seg-pter/
3-7
n.a. postnatal PBL n.a.
-----
11pter to 11p15.1 in mosaic
focal form of neonatal hyperinsulinism (gene ABCC8 in 11p15.1) {726}  
  11-WpU-
seg-pter/
4-1 to 2
2 female prenatal AF 46,XX
-----
11pter to 11p15
BWS; omphalocoele, TOP {195} 2 cases  
  11-WpU-
seg-pter/
5-1
n.a. postnatal PBL n.a.
-----
11pter to 11p14.3
{beta}-thalassemia major evolution from {beta}-thalassemia minor
(gene HBB in 11p15.4)
{498}  
  11-WpU-
seg-pter/
5-2
n.a. postnatal PBL n.a.
-----
11pter to 11p14.3
mosaic 96%
BWS {782} case 11
 
  11-WpU-
seg-pter/
5a-1
n.a. postnatal PBL n.a.
-----
11pter to 11p14.2
mosaic 65%
BWS {782} case 6  
  11-WpU-
seg-pter/
6-1 to 8
n.a. postnatal PBL n.a.
-----
11pter to 11p14
BWS {139} cases 20-27
{140}
 
  11-WpU-
seg-pter/
6-9 to 13
n.a. postnatal PBL 46
-----
11pter to 11p14
in one case also somatic mosaicism
BWS, Wilmstumor {208} 5 cases
{209} 3 cases
 
  11-WpU-
seg-pter/
6-14
male postnatal PBL 46,XY
-----
11pter to 11p14
BWS; permanent neonatal diabetes, hemihypertrophy (gene ABCC8 in 15p15.1)
{325}  
  11-WpU-
seg-pter/
6-15 to 23
n.a. postnatal PBL n.a.
-----
11pter to 11p14
all cases also somatic mosaicism
BWS {330} 9 cases  
  11-WpU-
seg-pter/
6-24
n.a. postnatal PBL n.a.
-----
11pter to 11p14
BWS {348} family 5
{351; 349}
 
  11-WpU-
seg-pter/
6-25
n.a. postnatal PBL 46,XN
-----
11pter to 11p14
BWS {609} case 8  
  11-WpU-
seg-pter/
6-26
n.a. postnatal PBL n.a.
-----
11pter to 11p14
BWS {619} case 37  
  11-WpU-
seg-pter/
6-27
n.a. postnatal PBL n.a.
-----
11pter to 11p14
mosaic 20-50%
BWS {955} case 2
 
  11-WpU-
seg-pter/
7-1
male newborn PBL 46,XY
-----
11pter to 11p14~13
BWS {106}  
  11-WpU-
seg-pter/
8-1 to 8-8
n.a. postnatal PBL n.a.
-----
11pter to 11p13
BWS {139} cases 28-35
{140}
 
  11-WpU-
seg-pter/
8-9 to 14
3 male, 3 female postnatal PBL 46,XX or 46,XY
-----
11pter to 11p13
BWS {157} cases 1-2 and 4-7  
  11-WpU-
seg-pter/
8-15
n.a. postnatal PBL 46,XN
-----
11pter to 11p13
BWS {609} case 5  
  11-WpU-
seg-pter/
8-16
n.a. postnatal PBL n.a.
-----
11pter to 11p13
mosaic 21%
BWS {782} case 9  
  11-WpU-
seg-pter/
9-1
n.a. postnatal PBL 46,XN
-----
11pter to 11p12
BWS {609} case 3  
  11-WpU-
seg-pter/
9-2 to 9-7
n.a. postnatal PBL n.a.
-----
11pter to 11p12
mosaic cases
BWS {955} cases 3-5; 18-19
 
  11-WpU-
seg-pter/
10-1
n.a. newborn PBL n.a.
-----
11pter to 11p11
BWS, Wilmstumor {397}  
  11-WpU-
seg-pter/
10-2 to 3
n.a. newborn PBL n.a.
-----
11pter to 11p11 in mosaic
BWS {513} 2 cases  
  11-WpU-
seg-pter/
10-3 to 16
n.a. postnatal PBL n.a.
-----
11pter to 11p11
BWS {139} cases 36-48
{140}
 
  11-WpU-
seg-pter/
10-17 to 21
n.a. postnatal PBL 46,XN
-----
11pter to 11p11.2
BWS {609} cases 1, 2, 4, 9  
  11-WpU-
seg-pter/
10-22
n.a. postnatal PBL n.a.
-----
11pter to 11p11.2
mosaic 12%
BWS {782} case 5  
  11-WpU-
seg-pter/
10-23
n.a. postnatal PBL n.a.
-----
11pter to 11p11.2
mosaic 18%
BWS {782} case 10
 
  11-WpU-
seg-pter/
10-24
n.a. postnatal PBL n.a.
-----
11pter to 11p11.2
mosaic 58%
BWS {782} case 13  
  11-WpU-
seg-pter/
10-25
n.a. postnatal PBL n.a.
-----
11pter to 11p11.2
mosaic 85%
BWS {782} case 15  
  11-WpU-
seg-pter/
10-26
male newborn PBL n.a.
-----
11pter to 11p11.1
mosaic 7-8%
BWS {818} case 1  
  11-WpU-
seg-pter/
10-27
male newborn PBL n.a.
-----
11pter to 11p11.2
mosaic 10-15%
BWS {818} case 2  
  11-WpU-
seg-pter/
10-28 to 10-32
n.a. postnatal PBL n.a.
-----
11pter to 11p11.1~11.2
mosaic
BWS {955} cases 6-9, 24  
  11-WpU-
seg-p15/
1-1 to 2
n.a. postnatal PBL n.a.
-----
11p15
{beta}-thalassemia major evolution from {beta}-thalassemia minor (gene HBB in 11p15.4)
{549; 716} two families  
  11-WpU-
seg-p15/
1-3
n.a. postnatal PBL n.a.
-----
11p15
BWS {766}
case 1
 
  11-WpU-
seg-p15.5/
1-1
n.a. newborn PBL n.a.
-----
11p15.5 to 11p14~13 in mosaic
BWS {507}  
  11-WpU-
seg-p14.2/
1-1
male 14y PBL n.a.
-----
11p14.2-11p13 in mosaic
Sickle cell anemia (gene HBB in 11p15.4)
{563}