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CASES WITH UNIPARENTAL DISOMY
- maternal UPD 6 -

 

      
 

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

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  06-
OmU-
imb/
1-1
female pre- and postnatal chorion, AF 47,XX,+6 in chorion
46,XX in AF
normal acc. to parents at 3 months {198}  
                 

 


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  
  06-
WmU-N/
1-1
female prenatal AF n.a. IUGR, catched up after birth; congenital adrenal hyperplasia (CYP21A2 gene in 6p21.33)
{338}  
  06-
WmU-N/
1-2
male adult PBL n.a. IUGR, catched up after birth, renal transplant patient; susceptibility to sarcoidosis type 1 (HLA-DRB1 gene in 6p21.32)
{360}  
  06-
WmU-N/
1-3
male 2y PBL 46,XY right unilateral cleft lip and palate, no growth retardation pre- or postnatal; normal developed at 2 y; hUPD(6)
{570}  
  06-
WmU-N/
1-4
female prenatal AF/ PBL 46,XX IUGR, born as too small for age; ASD (atrial septal defect) {0}  
  06-
WmU-N/
2-1
male 2y9m PBL n.a. IUGR, 3M-syndrome-1 (CUL7 gene in 6p21.1)
{602}  
  06-
WmU-N/
3-1 and 3-2
n.a. postnatal PBL n.a. Leber congenital amaurosis 15 (TULP1 gene in 6p21.31)
{733}  
  06-
WmU-N/
4-1
female 0.5 y PBL 46,XX
extremly skewed X-chr. inactivation
Wiskott-Aldrich syndrome (WASP = WASF3 gene in 6q21) {855}  
  06-
WmU-N/
5-1
male prenatal AF 46,XY IUGR; ambigous genitalia, DD, failur to thrive, hemangiomas, retrognathia, camptodactyly
iUPD(6) - no gene identified
{953}  
  06-
WmU-N/
6-1
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

 

 
  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  
  06-
WmU-
sSMC/
1-1
06-
CW-3
male/
32y
PBL  48,XXY,+mar[30]/
47,XXY[20]
mar(6) .ish(cep+) all centromeric probes Klinefelter syndrome; growth retardation at birth and at 8m of age {288 }  
                     

 


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  
  06-
WmU-
imb/
1-1
male postnatal miscarriage skin, AF 47,XY,+6/46,XY intrauterine death in week 23 {138}  
  06-
WmU-
imb/
1-2
female prenatal CH; AF CH: 47,XX,+6[12]/46,XX[19]
AF: 46,XX
IUGR {964} case 1  
  06-
WmU-
imb/
1-3
female prenatal CH; AF CH: 47,XX,+6[14]/46,XX[16]
AF: 46,XX
IUGR {964} case 2  
                 

 


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  
  06-WmU-
seg-pter/
1-1
male newborn PBL 46,XY
-----
6pter-6p21.1; and 6q13-q22.31
Molybdenum cofactor (MoCo) deficiency of complementation group A (MOCS1 gene in 6p21.2) {582}  
  06-WmU-
seg-q16.1/
1-1
female prenatal AF 46,XX
-----
6q16.1-6qter
IUGR, child born, global developmental delay; growth delay was catched up at age of 2 y; iUPD(6) but no gene identifed
{742}  
  06-WmU-
seg-q24.1/
1-1
n.a. postnatal PBL n.a.
-----
duplication and triplication in 6q24.1 and UPD
n.a. {908}
case BAB3922