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

CASES WITH UNIPARENTAL DISOMY
- paternal 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

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 imbalance

 

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

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  15-
WpU-
N/1-1
to 2
female childhood PBL 46,XX Angelman syndrome = AS {113}2 cases; {308}  
  15-
WpU-
N/1-3
to 5
n.a. childhood PBL n.a. AS {131} 3 cases; {308}  
  15-
WpU-
N/1-6
female 6y PBL n.a. AS {145} patient 2  
  15-
WpU-
N/1-7
male 18y PBL n.a. AS
{150} patient 4  
  15-
WpU-
N/1-8
to 12
male and female childhood PBL n.a. AS {185} cases 9-13  
  15-
WpU-
N/1-13
female 8y PBL 46,XX AS {194} case 32  
  15-
WpU-
N/1-14
female childhood PBL n.a. AS {185} cases 9-13  
  15-
WpU-
N/1-15
female 6y PBL 46,XX AS {197}  
  15-
WpU-
N/1-16
to 17
female and male 6m and 6y PBL 46,XX and 46,XY AS {253} cases W1 and D1  
  15-
WpU-
N/1-18
to 19
n.a. n.a. n.a. n.a. AS {273} 2 cases  
  15-
WpU-
N/1-20
n.a. postnatal n.a. n.a. AS {278}  
  15-
WpU-
N/1-21
n.a. postnatal n.a. 46,XN AS {281} 1 case  
  15-
WpU-
N/1-22
female 10y PBL 46,XX AS {294}  
  15-
WpU-
N/1-23
to 29
male and female postnatal PBL 46,XN AS {302} 7 cases  
  15-
WpU-
N/1-30
to 44
8male and 9 female postnatal PBL 46,XN, 2x n.a. AS {308} 14 cases; {566} 4 cases  
  15-
WpU-
N/1-45
n.a. postnatal PBL n.a. AS {514} 1 case  
  15-
WpU-
N/1-46
male 41m PBL 46,XX AS {192}  
  15-
WpU-
N/1-47
to 49
n.a. postnatal PBL 46,XN AS {314} 3 cases  
  15-
WpU-
N/1-50
to 53
n.a. postnatal PBL 46,XN AS {359} 4 cases  
  15-
WpU-
N/1-54
to 55
male and female postnatal PBL 46,XN AS {393} 2 cases  
  15-
WpU-
N/1-56
to 62
male and female n.a. n.a. n.a. AS {475} 7 cases  
  15-
WpU-
N/1-63
to 65
1x male, 2x female postnatal PBL 46,XN AS {528} cases 28-30  
  15-
WpU-
N1-66
female postnatal PBL 46,XX AS {530}  
  15-
WpU-
N/1-67
male prenatal AF 46,XY (chr. 15p with identical pat. heteromorphism) AS {593}  
  15-
WpU-
N/1-68
to 73
n.a. postnatal PBL n.a. AS {595} 6 cases  
  15-
WpU-
N/1-74
n.a. postnatal PBL n.a. AS {349} 1 case  
  15-
WpU-
N/1-75
n.a. postnatal PBL n.a. AS {606} 1 case  
  15-
WpU-
N/1-76
n.a. 4m PBL n.a. AS (iso UPD 15) {619} case 12  
  15-
WpU-
N/1-77
n.a. 9y PBL n.a. AS (iso UPD 15) {619} case 14  
  15-
WpU-
N/1-78
to 79
n.a. postnatal PBL n.a. AS {627} 2 cases  
  15-
WpU-
N/1-80
to 81
n.a. postnatal PBL n.a. AS {641} 2 cases  
  15-
WpU-
N/1-82 to 83
n.a. postnatal PBL n.a. AS {734} 2 cases  
  15-
WpU-
N/1-84
n.a. postnatal PBL 46,XN n.a. in detail; clinically abnormal, AS
{163} case 23  
  15-
WpU-
N/1-85
n.a. postnatal PBL n.a. AS {784}  
  15-
WpU-
N/1-86 to 90
n.a. postnatal PBL n.a. AS {792; 824; 830} 5 cases
 
  15-
WpU-
N/1-91 to1-96
n.a. postnatal PBL n.a. AS {828} 6 cases  
  15-
WpU-
N/1-97 to1-98
male and female postnatal PBL n.a. AS {859} 2 cases  
  15-
Wpu-
N/1-99
to 1-112
n.a. postnatal PBL n.a. AS {874} 14 cases  
  15-
WpU-
N/1-113
male postnatal PBL n.a. AS {925}  
  15-
WpU-
N/1-114
male 4y PBL n.a. AS {944}  
  15-
WpU-
N/1-115
n.a. postnatal PBL n.a. AS
isoUPD 15 in 15q14-q21.3
rest most likely hUPD
{962} 1 case  
  15-
WpU-
N/1-116 to 1-112
n.a. postnatal PBL n.a. AS {990} 6 cases  
  15-
Wpu-
N/2-1
male 6y PBL 46,XY
mosaic iUPD - as based on aCGH result (80% of PBL)
AS
Developmental verbal dyspraxia (DVD)
{869} case 3  
  15-
Wpu-
N/3-1 to 3-4
n.a. n.a. n.a. n.a. n.a. {982}  
                 

 


References

pat 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-
WpU-
bal/
1-1
male 6.5y PBL 45,XY,der(13;15)(q10;q10)
besides pat UPD 15 also pat UPD 13q14.3
AS {357}  
  15-
WpU-
bal/
1-2
female 12y PBL 45,XX,der(13;15)(q10;q10)pat AS {527}  
  15-
WpU-
bal/
1-3
male 5y PBL 45,XY,der(13;15)(q10;q10)pat AS {0} case provided by Dipl.-Med. P Sitte-Zöllner, Apolda, Germany  
  15-
WpU-
bal/
1-4
female 12y PBL 45,XX,der(13;15)(q10;q10)pat AS {527}  
  15-
WpU-
bal/
2-1
n.a. postnatal PBL 45,der(14;15)(q10;q10)pat AS {98} 1 case  
  15-
WpU-
bal/
2-2
male postnatal PBL 45,XX,der(14;15)(q10;q10)pat AS {528} case 21 and {308}  
  15-
WpU-
bal/
3-1
male postnatal PBL 45,XY,der(15;15)(q10;q10)dn AS {182}  
  15-
WpU-
bal/
3-2
male postnatal PBL 45,XY,der(15;15)(q10;q10) AS {355}  
  15-
WpU-
bal/
3-3
to 4
n.a. n.a. n.a. 45,der(15;15)(q10;q10) AS {418} 2 cases  
  15-
WpU-
bal/
3-5
male postnatal PBL 45,XY,der(15;15)(q10;q10) AS {419}  
  15-
WpU-
bal/
3-6
male newborn PBL 45,XY,der(15;15)(q10;q10) AS {442}  
  15-
WpU-
bal/
3-7
to 8
1 male and 1 female n.a. PBL 45,der(15;15)(q10;q10) AS {308} cases V28 and V89  
  15-
WpU-
bal/
3-9
male postnatal PBL 45,XY,der(15;15)(q10;q10) AS {777}  
  15-
WpU-
bal/
4-1
n.a. postnatal PBL 45,XX,t(6;15)(p25.3;q11.1)pat AS {412} 1 case  
  15-
WpU-
bal/
5-1
male 29y PBL 45,XY,t(8;15)(p23.3;q11)pat AS {413} 1 case  
                 

 


References

pat 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-
WpU-
sSMC/
1-1
15-A-
q11/
1-1
male /
4y
PBL 47,XY,+inv dup(15)(q11)[60%]/
46,XY[40%]
n.a. n.a. AS {23} case 1
{308}
 
  15-
WpU-
sSMC/
2-1
15-A-
q11/
1-2
male/
18m
PBL 47,XY,+mar[50] inv dup(15)(q11) FISH with D15S63; cen15 AS {62; 63}  
  15-
WpU-
sSMC/
3-1
15-A-
q11.2/
1-1
male/
prenatal
AF culture 1: 47,XY,+mar[100]
culture 2: mar only in 32%
inv dup(15)(q11.2) cenM; subcenM; UBE3A AS {791}
 
  15-
WpU-
sSMC/
4-1
15-A-
q11.1/
1-1
female/
postnatal
PBL 47,XX,+mar[100%] inv dup(15)(q11.1) cep AS {0} provided by Dr. Natiq, Rabat, Maroc
 
  15-
WpU-
sSMC/
4-2
15-A-
q11.1/
1-2
female/
1y
PBL 47,XX,+mar[100%] inv dup(15)(q11.1) acrocenM, subcenM AS {0} provided by Dr. Gödde, Germany  
  15-
WpU-
sSMC/
5-1
daughter of case 22-O-
q11.1/
1-67
female/
child
PBL 47,XX,+mar mat[100%]
UPD(15)pat
inv dup(22)(q11.1) M-FISH
subcenM
AS {952}  
                     

 


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  
  15-
WpU-
imb/
1-1
n.a. ~2y PBL 46,XN,del(11)(q21q22.3) AS {678}  
  15-
WpU-
imb/
2-1
female childhood PBL 46,XX,+der(13)t(13;15)(q14.1;q12)mat,-15 AS {972}  
                 

 


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  
  15-
WpU-
seg-q24.2/
1-1
n.a. postnatal PBL n.a. - most likely 46,XN
-----
in 34% of cells 15q24.2-qter
atypical pontocerebellar hypoplasia
(gene POLG in 15q26.1)
{886}