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

CASES WITH UNIPARENTAL DISOMY
- paternal UPD 14 -

 

      
 

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

KS meanwhile also identified due to epimutations and no UPD(14)pat; e.g. {851}; Review on KS see {916}

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  14-WpU-
N/1-1
male newborn PBL 46,XY pat UPD 14 syndrome Kagami syndrome = KS
{137}  
  14-WpU-
N/1-2
n.a. postnatal PBL 46,XN KS {163} case 22  
  14-WpU-
N/1-3
male newborn PBL 46,XY KS {184}  
  14-WpU-
N/1-4
to 5
female and male newborn PBL 46,XX and n.a. KS {226; 227} cases 1 and 2; {664} cases 6 and 16 {695, 699; 703}
 
  14-WpU-
N/1-6
to 12
3 female  and 4 male newborn PBL 46,XY or 46,XX KS {227} cases 4-10; {664} cases 1, 2, 4, 7, 8, 9, 15  
  14-WpU-
N/1-13

to 14
female and male newborn PBL 46,XY and 46,XX KS {241} cases 1 and 2  
  14-WpU-
N/1-15
male newborn PBL 46,XY KS {280}  
  14-WpU-
N/1-16
female abortion tissue 46,XX KS; spontaneous abortion {358} case 35  
  14-WpU-
N/1-17
male postnatal PBL n.a. KS {436} case 3  
  14-WpU-
N/1-18

to 20
female pre- and postnatal CH, AF, PBL 46,XX KS {436} cases 1,2,4
{437, 438, 695}
 
  14-WpU-
N/1-21
male postnatal PBL 46,XX KS {548} case 1  
  14-WpU-
N/1-22

to 23
n.a. postnatal AF/ archival tissues 46,XN KS {569} 2 cases  
  14-WpU-
N/1-24
male prenatal AF 46,XY KS {605}  
  14-WpU-
N/1-25
n.a. postnatal PBL n.a. KS {617} 7th UPD case not mentioned in {438} and {226}  
  14-WpU-
N/1-26

to 38
n.a. postnatal PBL n.a. KS {624} 13 cases  
  14-WpU-
N/1-39

to 45
n.a. postnatal PBL n.a. KS {664} 7 cases  
  14-WpU-
N/1-46
n.a. newborn PBL n.a. KS {680}  
  14-WpU-
N/1-47
n.a. postnatal PBL n.a. KS {719}  
  14-WpU-
N/1-47
female postnatal PBL n.a. KS {721}  
  14-WpU-
N/1-48
male prenatal AF/PBL n.a. KS {762}  
  14-WpU-
N/1-49
female prenatal AF 46,XX KS {799}  
  14-WpU-
N/1-50
female postnatal PBL n.a. KS {820}  
  14-WpU-
N/1-51
n.a. postnatal PBL 46 KS {877} 3 new cases  
  14-WpU-
N/1-52
n.a. prenatal AF n.a. KS {952}  
  14-WpU-
N/1-53
n.a. prenatal fetus n.a. KS
iUPD 14q11.2q32.33
most likle rest of #14 hUPD
{977}  
  14-WpU-
N/2-1
female 6y PBL 46,XX
mosaic iUPD - as based on aCGH result (20% of PBL)
(KS) microcephaly, epileptic encephalopathy, cerebral atrophy {896} case 11  
  14-WpU-
N/3-1
male ~2y PBL 46,XY

KS and hypospadias
maybe due to gene ESR2 in 14q23.2

{957}  
  14-WpU-
N/4-1 to 4-2
n.a. n.a. n.a. n.a.

n.a.

{982}  
  14-WpU-
N/4-3
male newborn n.a. n.a.

KS acc. to clinical signs

{984}  
                 

 


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  
  14-
WpU-
bal/
1-1
female postnatal PBL 45,XY,der(13;14)(q10;q10) KS {141}  
  14-
WpU-
bal/
1-2
female postnatal PBL 45,XX,der(13;14)(q10;q10) KS {241} case 3  
  14-
WpU-
bal/
1-3
female postnatal PBL 45,XX,der(13;14)(q10;q10)pat KS {430}  
  14-
WpU-
bal/
1-4
female postnatal PBL 45,XX,der(13;14)(q10;q10)
mother with 46,XX,t(1;14)(q32;q32)
KS {370}  
  14-
WpU-
bal/
2-1
male postnatal PBL 45,XY,der(14;14)(q10;q10)dn KS {98} 1 case
{99}
 
  14-
WpU-
bal/
2-2
female prenatal AF 45,XX,der(14;14)(q10;q10)dn KS {259}  
  14-
WpU-
bal/
2-3
female prenatal AF 45,XX,inv(9)(p11q13),der(14;14)(q10;q10)dn KS {340}  
                 

 


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  
  14-
WpU-
sSMC/
1-1
14-W-
q11.1/
2-1
female/
1y
PBL 47,XX,+mar[44]/
46,XX[6]
inv dup(14)(q11) centromeric probes, subcenM KS {61}  
                     

 


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  
  14-
WpU-
imb/
1-1
female postnatal PBL 46,XX[20-25%]/
47,XX,+14[75-80%]
KS {548} case 2  
  14-
WpU-
imb/
2-1
female prenatal AF 45,XX,der(13;14)(q10;q10)mat[48]/
46,XX,+13,der(13;14)(q10;q10)mat[2]
KS {97}  
                 

 


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  
  14-WpU-
seg-q12/
1-1
male prenatal AF 46,XY
-----
14q12 to 14qter
KS {142; 405}  
  14-WpU-
seg-q22.3/
1-1
female newborn PBL 46,XX
-----
14q22.3 to 14qter
KS {226; 227} case 3, {664} case 17
 
  14-WpU-
seg-q32.12/
1-1
n.a. n.a. PBL n.a.
-----
duplication and triplication in 14q32.12 and UPD
n.a. {908}
case
BAB3924
 
  14-WpU-
seg-q32/
1-1
female newborn PBL 46,XX
-----
14q32 to 14q32.33
KS {568}  
  14-WpU-
seg-q32.2/
1-1
male 4y PBL 46,XX
-----
14q32.2 to 14q32.33
KS {686}