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CASES WITH UNIPARENTAL DISOMY
- maternal UPD 2 -

 

      
 

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

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  02-
OmU-N/
1-1
female 4y PBL 46,XX no clinical signs; detected due to exclusion of paternity test {206}  
                 

 


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  
  02-
OmU-bal/
1-1
female 36y PBL 46,XX,i(2)(p10),i(2)(q10) normal woman acquired due to repeated abortions {37}  
  02-
OmU-bal/
2-1 to 2-2
see 02-OmU-seg-q11/1-1 to 1-2    
                 

 


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

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  02-
OmU-
seg-p16/
1-1
female 22y PBL 46,XX
-----
2p16
normal female {341}  
  02-
OmU-
seg-q11/
1-1
female 36y PBL 46,XX,i(2)(p10),i(2)(q10)
-----
2q11 to 2qter
normal female studied due to repeated abortions {58}
{348; 349} family 4
 
  02-
OmU-
seg-q11/
1-2
male 34y PBL 46,XY,i(2)(p10),i(2)(q10)
-----
2q11 to 2qter
normal male studied due to repeated abortions in female partner {450}  
                 

 


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  
  02-
WmU-N/
1-1
male postnatal PBL n.a. Severe congenital hypothyroidism (gene TPO in 2p25.3)
{128; 512}  
  02-
WmU-N/
2-1
male postnatal PBL n.a. Infantile-onset ascending spastic paralysis (gene IAHSP in 2q33.1) {212}  
  02-
WmU-N/
3-1 to 3-2
male and n.a. postnatal PBL n.a. Lethal trifunctional protein deficiency (gene HADHA/ LCHAD in 2p23.2) {337} 2 cases  
  02-
WmU-N/
4-1
male newborn PBL n.a. Inherited disorders of pulmonary surfactant metabolism (gene SFTPB in 2p11.2) {490} Patient with SP-B deficiency  
  02-
WmU-N/
5-1
male newborn PBL n.a. Familial male-limited precocious puberty (gene LHCGR in 2p16.3) {509}  
  02-
WmU-N/
6-1
female newborn PBL n.a. Homozygous deletion of approximately 28.6 kb that disrupts the PREPL and the CAMKMT genes but not the SLC3A1 gene {677; 747}  
  02-
WmU-N/
7-1
female 21y PBL 46,XX Klippel Feil syndrome and more complex aberrations
iUPD but no gene identified as causative
{704}  
  02-
WmU-N/
8-1
female newborn PBL 46,XX Hepatocerebral mitochondrial DNA depletion syndrome (gene DGUOK in 2p13.1) {708}  
  02-
WmU-N/
9-1
n.a. postnatal PBL n.a. see below {763} case 259010  
  Glandular hypospadias, overlapping toe, bicuspid aortic valve, global developmental delay, meckel diverticulum, eczema, gastroesophageal reflux, gene n.d.
 
  02-
WmU-N/
10-1
n.a. postnatal PBL n.a. Microcephaly-capillary malformation syndrome (gene STAMBP in 2p13.1) {764}  
  02-
WmU-N/
11-1
male 1y PBL n.a. Epilepsy, generalized, with febrile seizures plus, type 7
(gene SCN9A in 2q24.3)
{841} case 449  
  02-
WmU-N/
12-1
female postnatal PBL n.a. Congenital myasthenia syndrome (gene GFPT1 in 2p13.3) {846}  
  02-
WmU-N/
13-1
male postnatal PBL n.a. arthrogryposis multiplex congenita and myopathy without cardiac involvement (gene TTN in 2q31.2) {966}  
  02-
WmU-N/
14-1
male 3y PBL n.a.

Obesity and developmental delay
(no gene identified - 2 cnadidate genes GPBAR1 and CAPN10)

{973}  
  02-
WmU-N/
15-1
n.a. n.a. n.a. n.a.

n.a.

{982}  
                 

 


References

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

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  02-
WmU-bal/
2-1
male newborn PBL 46,XY,i(2)(p10),i(2)(q10) - (isoUPD) bilateral ear pits, significant pectus carinatum, growth retardation {60}  
                 

 


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  
  02-
WmU-
imb/

1-1
male prenatal AF, placenta placenta: 47,XX,+2/46,XX
AF: 46,XX
IUGR; hypospdias, oligohydramnion; child too small for gestatiojhnal age born in week 36, oxidatove stress and dead 2 h after birth {203}  
  02-
WmU-
imb/

1-2
male pre- and postnatal AF, placenta placenta: 47,XY,+2/46,XY
AF: 46,XY
IUGR; growth retradation; otherwise normal {204}  
  02-
WmU-
imb/

1-3
female pre- and postnatal AF, placenta, skin placenta, CH, AF: 47,XX,+2/46,XX
PBL, skin: 46,XX
IUGR; growth retradation; multiple minor malformations {375}
{386} case 2
 
  02-
WmU-
imb/

1-4
female pre- and postnatal AF, placenta, skin placenta, CH, AF: 47,XX,+2/46,XX
PBL, skin: 46,XX
IUGR; growth retradation; multiple minor malformations, normal development at 6 months {386} case 1  
                 

 

 


References

mat segmental UPD cases with or unclear clinical correlation

 

NO REPORTS YET