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CASES WITH UNIPARENTAL DISOMY
- maternal UPD 20 -

 

      
 

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  
  20-
WmU-N/
1-1
male 17 months PBL n.a. see below {158} case 2  
  growth retardation at 17 months; birth weight <3rd centile, birth length <10th centile; at 17 months: macrocephaly, strabsim, clinodactyly on both hands, IGF-I and IGFBP3 levels decreased  
  20-
WmU-N/
1-2
female 9y PBL n.a.
SNP array normal apart from UPD 20
growth retardation, incl. IUGR; failure to thrive and reflux, scoliosis {901} case 1  
  20-
WmU-N/
1-3
female 8y PBL n.a.
SNP array normal apart from UPD 20
growth retardation , incl. IUGR; feeding problems, DYS, hyperpigmented spots on skin {901} case 2
 
  20-
WmU-N/
1-4
male 5y PBL n.a.
SNP array normal apart from UPD 20
growth retardation , incl. IUGR; feeding problems, hypotonia, horseshoe kidney, VSD, slight DD {901} case 4  
  20-
WmU-N/
1-
5
male 6y PBL n.a.
SNP array normal apart from UPD 20
growth retardation , incl. IUGR; feeding problems, hypotonia {901} case 5
 
  20-
WmU-N/
1-
6
male 12y PBL n.a.
SNP array normal apart from UPD 20
growth retardation , incl. IUGR; feeding problems, hypotonia {901} case 6  
 

20-
WmU-N/
1-7

female 9y PBL 46,XX
methylaton sensitive PCR
growth retardation , incl. IUGR; feeding problems, hypotonia {901} case 7
 
 

20-
WmU-N/
1-8

female 3m PBL n.a.
SNP array normal apart from UPD 2
0
growth retardation , incl. IUGR; feeding problems {901} case 8
 
 

20-
WmU-N/
2-1 to 2-4

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  
  20-
WmU-
sSMC/
1-1
20-W-
p13/
3-1
male/
1m
PBL 47,XY,+mar[100%] min(20)(pterq11.1:) centromeric probes, subcenM, MCB see below {0}  
  born at 36 weeks gestation; birth weight - 1.92kg; at birth - plagiocephaly; micrognathia; long philtrum; high arched palate; low set ears; slightly widened bulbar fingers; slightly prominent occiput and prominent forehead; right inguinal hernia; inverted nipples; hypospadius; torticollis; a heart scan at 3m showed 4 VSDs and a PFO. He also suffers from gastrooesophageal reflux; mild optic nerve hypoplasia, nystagmus and some asymmetric opsoclonus - more in the left eye than right eye. MRI brain scan in at 10m of age revealed a wide range of craniocerebral abnormalities, neurodevelepmental delay; dysplastic inner ear on left side and cerebellar tonsillar ectopia through the foramen magnum. At 1y he was operated on to lower his left un-descended testicle. Spine MRI and X-rays at 13m showed scoliosis. At 16m still unable to sit unaided and now had gaiters for his legs. Feeding problems after birth and was fed via an NG tube until 1y when a gastrosomy PEG was introduced. At 15m weight 7.22kg.  
  20-
WmU
sSMC/
2-1
20-W-
p11.1/
2-1
male/
4y
PBL 47,XY,+mar[20]/
46,XY[28]
min(20)(:p11.1q11.1:) midi see below {32}  
  growth retardation; minor facial dysmorphic features; hyperactive; mother at age of conception 40y; intra-uterine growth retardation
 
  20-
WmU
sSMC/
3-1
20-
U-16
male/
1.5 y
PBL 47,XY,+mar[13]/
46,XY[7]
mar(20)(p12.2q11.21)
aCGH: 10.61-29.64 Mb
aCGH dysmorph, DD, cleft palate, growth retardation, frontal bossing {864}  
                     

 


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  
  20-
WmU-
imb/
1-1
female prenatal AF; PBL 47,XX,+20/46,XX in AF
46,XX in PBL
IUGR; growth retardation; clinodactyly, delayed psychomotor development {315}  
  20-
WmU-
imb/
2-1
female prenatal AF; PBL, placenta, urine sediment 47,XX,+20/46,XX in AF, PBL
47,XX,+20 in urine and placenta
IUGR; growth retardation; delayed psychomotor development {366}  
                 

 


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  
  15-WmU-
seg-p12/
1-1
male 4y PBL 46,XY
------
20p12 to 20q13.13
growth retardation , incl. IUGR; feeding problems, epicanthus, hyperpigmented spots on skin

{901}
case 3