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CASES WITH UNIPARENTAL DISOMY
- maternal UPD X -

 

- in 75% of Turner syndrome patients remaining X-chromosome is of maternal origin {443} leading to less social adaptation {526}

- skewed X-chromosome inactivation might be considered as kind of UPD {244; 839}

- at least a certain percentage of Klinefelter syndrome patients might be considered as kind of mat UPD X


      
 

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

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  0X-
WmU-N/
1-1
female 6y PBL 46,XX Duchenne muscular dystrophy (gene DMD in Xp21.1)
{297}  
  0X-
WmU-N/
1-2
female 45y PBL 46,XX Duchenne muscular dystrophy (gene DMD in Xp21.1) {0} (case 398-10)  
  0X-
WmU-N/
2-1 to 2-2
n.a. n.a. n.a. n.a. n.a. {982}  
                 

 


References

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

 

NO REPORTS YET

 


References

mat UPD cases with clinical findings or unclear correlation and sSMC

 

NO REPORTS YET

 


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  
  0X-
WmU-
imb/
1-1
female postnatal PBL 45,X/46,XX short stature, Turner syndrome features {302}  
  0X-
WmU-
imb/
2-1
 female postnatal PBL 45,X[80%]/
46,X,+del(X)(q13.2)[?%]/
46,X,r(X)(p22.3q13.2)[?%]
mat isoUPD X
short stature, Turner syndrome features {471}  
  0X-
WmU-
imb/
3
-1
male 3y PBL 47,XXY complete androgen insensitivity {489}  
  0X-
WmU-
imb/
3
-2
n.a. prenatal CH CH: 47,XXY/46,XX
in normal cell line mat UPD 16 and mat UPD X
IUGR, TOP {306} case 93.48  
  0X-
WmU-
imb/
3
-3
male 5y PBL 47,XXY mental retardation due to fra X (iso-UPD X) fragile X syndrome (gene FMR1 in Xq27.3)
{619} case 15  
  0X-
WmU-
imb/
4
-1
male n.a. n.a. 48,XXXY n.a. {250} 1 case  
  0X-
WmU-
imb/
5
-1
female n.a. n.a. 48,XXXX n.a. {250} 1 case  
  0X-
WmU-
imb/
6
-1

to 4
male n.a. n.a. 49,XXXXY n.a. {250} 4 cases  
  0X-
WmU-
imb/
6
-4

to 14
male n.a. n.a. 49,XXXXY n.a. {537-538 and 540-542} 10 cases  
  0X-
WmU-
imb/
7
-1
female postnatal PBL 49,XXXXX (develp)omental delay {264}  
  0X-
WmU-
imb/
7
-2

to 3
female postnatal PBL 49,XXXXX (develp)omental delay {538 and 539}  
  0X-
WmU-
imb/
8
-1
female postnatal PBL 46,X,idic(X)(p11.2)[10%]/46,XX[90%]
mat UPD X in normal cell line
(develp)omental delay {625}  
  0X-
WmU-
imb/
9
-1
male 35y PBL 46,XX[15]/45,X[3]/ 46,XY[12] infertile male {785}  
  0X-
WmU-
imb/
9
-2
unclear child PBL mos 46,XX/45,X/ 46,XY

DMD (gene DMD in Xp21.1)

{906}  
                 

 


References

mat segmental UPD cases with or unclear clinical correlation

 

N.B.: partial duplications in X-chr. in male may lead to UPD {806}

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  0X-WmU-
seg-q27.2/
1-1
female 14m PBL n.a.
-----
Xq27.2 to Xqter
hemophilia B (gene F9 in Xq27.1)
{322}  
  0X-WmU-
seg-q25/
1-1
n.a. newborn PBL n.a.
-----
Xq25 to Xq28
fragile X syndrome (gene FMR1 in Xq27.3) {619} case 38