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CASES WITH UNIPARENTAL DISOMY
- maternal UPD 9 -

 

      
 

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

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  09-OmU-
bal/1-1
female 34y PBL 46,XX,i(9)(p10),i(9)(q10) normal woman, repeated abortions {108}  
                 

 


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  
  09-
WmU-N/
1-1
male 12th week of gestation placenta 46,XY spontaneous abortion in week 12; at week 10 growth retardation {183} case 1  
  09-
WmU-N/
2-1 to 2
females newborn/ childhood PBL 46,XX cartilage-hair hypoplasia (gene RMRP in 9p13.3)
{342} cases 1 and 2  
  09-
WmU-N/
3-1
female stillborn twins PBL 46,XX Leigh syndrome, due to COX deficiency (gene SURF1 in 9q34.2) {352}  
  09-
WmU-N/
4-1
female newborn PBL 46,XX cleft palate, VSD, hip subluxation, dysmorphic face; (neonatal diabetes mellitus and) congenital hypothyroidism (gene FOXE1 in 9p22.33)
{575, 576}  
  09-
WmU-N/
5-1
male 34y PBL 46,XY
(trisomy 9 mosaic excluded in blood and buccal smear)
see below {676}  
  renal failure because of IgA nephropathy, hypothyroidism, short stature with overweight, hypercholesterinemia, hypertriglyceridemia and, hyperuricemia; dislocation of patella, atopic eczema, eye problems (strabism, nystagmus, myopic astigmatism), inguinal hernias and umbilical hernia as an infant. Since infancy a disproportional large distended abdomen was noted with unidentified cause. At the age of about 15 years some hearing problems on the left side were noted.  
  09-
WmU-N/
6-1
male postnatal PBL n.a. sarcosinemia (SARDH gene in 9q34.2)
{694} family F, case II-3  
  09-
WmU-N/
7-1
n.a. postnatal PBL n.a. Abnormality of the heart, lobal developmental delay, specific learning disability, abnormality of prenatal development or birth {763} case 260453  
  09-
WmU-N/
8-1
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  
  09-
WmU
sSMC/
1-1
09-
W-p12/
1-1
female/
?
PBL 47,XX,+mar[36%]/
46,XX[64%]
r(9)(::p12q10::) midi see below {13} case L
{14} case D
{15} case 4
 
  Born at week 39 by cesarean section; birth weight: 2900g, length: 49cm; had moderate mental retardation and speech delay, but no obvious dysmorphism.  
                     

 


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  
  09-
WmU-
imb/
1-1
female prenatal CH, AF, PBL 47,XX,+9/46,XX no developmental delay; minor facial dysmorphism and skeletal abnormalities {329}  
  09-
WmU-
imb/
1-2 to 3
 male and female prenatal CH, AF 47,XN,+9/46,XN TOP in both cases {361} cases 3 and 7  
  09-
WmU-
imb/
1-4
female prenatal CH, placenta; different tissues 47,XX,+9/46,XX TOP {381}  
  09-
WmU-
imb/
1-5
male 17y PBL 47,XY,+9/46,XY dysmorphic features, mentally retarded {382}  
  09-
WmU-
imb/
1-6
female prenatal AF mos 47,XX,+9/46,XX see below {552}  
  fetus studied due to advanced maternal age; TOP; malformed fetus born: clenched hands, hypertelorism, a large forehead, bilateral epicanthal folds, a broad nasal bridge, low-set posteriorly rotated ears, a thin upper lip, micrognathia, and a short neck  
  09-
WmU-
imb/
1-7
n.a. prenatal CH mos 47,+9/46 n.a. {619} case 24  
  09-
WmU-
imb/
1-8
female 3m PBL 47,XX,+9[4]/46,XX[96] congenital heart defect including VSD, pigmentary skin lesions along the lines of Blaschko, dysmorphic face, microcephaly {648}  
  09-
WmU-
imb/
1-9
n.a. 6y PBL 46,XN,der(9)(pterp21.3:
:p22.3qter)
in aCGH dup:
15.48-25.14 Mb
UPD(9)seg: 9pter→9p36.33
in aCGH: 0-15.50 Mb
n.a. {858} case 130  
                 

 


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  
  09-WmU-
seg-q11/
1-1
male 3y PBL 46,XY
-----
9q11 to 9qter
Leigh syndrome, due to COX deficiency (gene SURF1 in 9q34.2) {362}  
  09-WmU-
seg-q34.3 to qter/
1-1
female 8y PBL

n.a.
-----
9q3?4.3 to 9qter

Invasive Exophila infection (gene CARD9 in 9q34.3) {831}