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CASES WITH UNIPARENTAL DISOMY
- maternal UPD 1 -

 

      
 

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 karyotyp

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  01-
OmU-N/

1-1
n.a. childhood PBL 46,XN diabetes melitus in both children and in mother; apart from that both children normal - diabetes not from UPD 1 {47}  
                 

 


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  
  01-
WmU-N/
1-1
female newborn PBL 46,XX Zellweger syndrome (gene PEX10 in 1p36.32)
{34}  
  01-
WmU-N/
2-1
male newborn PBL 46,XY Herlitz junctional epidermolysis bullosa (gene LAMB3 in 1q32.2) {36}  
  01-
WmU-N/
3-1
male 6y PBL 46,XY Chediak-Higashi syndrome (gene LYST in 1q42.3)
{45}  
  01-
WmU-N/
4-1
male newborn PBL 46,XY Maple syrup urine disease type 2 (gene MSUD2 in 1p21.2) {46}  
  01-
WmU-N/
5-1
male 9y PBL 46,XY autism (gene n.d.)
{48}  
  01-
WmU-N/
6-1
female newborn PBL 46,XX Herlitz junctional epidermolysis bullosa (gene LAMC2 in 1q25.3) {499}  
  01-
WmU-N/
7-1
n.a. 10m PBL n.a. CD45-deficient severe combined immunodeficiency (gene CD45 = PTPRC in 1q31.3) {684}  
  01-
WmU-N/
8-1
female newborn PBL n.a. T-cell immunodeficiency (gene LCK in 1p35.2) {698}  
  01-
WmU-N/
9-1
n.a. postnatal PBL n.a. Hereditary pyropoikilocytosis (gene SPTA1 in 1q23.1) {772}  
  01-
WmU-N/
9-3
female 2y PBL n.a. Hereditary pyropoikilocytosis (gene SPTA1 in 1q23.1) {838}  
  01-
WmU-N/
10-1
male 2y PBL n.a. Mandibuloacral dysplasia (gene LMNA in 1q22)
{787}  
  01-
WmU-N/
11-1
male newborn PBL n.a. infantile hypophosphatasia  (gene ALPL in 1p36.12) {869}  
                 

 


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  
  01-
WmU-
sSMC/
1-1
01-
W-p21.1/
1-1
female/
6y
PBL 47,XX,+mar[14]/
46,XX[26]
r(1)(::p21.1q12::) midi; telomeric probes see below {1}  
  Born at term after uneventful pregnancy; birth weight 2500g, length 49cm; at 6y mental retardation; height and weight normal; HC 44cm (<3rd centile); additionally temporal narrowing, downward slanting palpebral fissures, long eyelashes, high palate, pointed chin, low set, dysplastic ears, hip dysplasia, tapering fingers with clinodactyly of fingers 2, 4, 5.  
                     

 


References

mat UPD cases with clinical findings or unclear correlation and other imbalances

 

NO REPORTS YET

 

 


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  
  01-
WmU-seg
n.a. postnatal PBL n.a. see below {763} case 257814  
  Cutaneous finger syndactyly, 2-3 toe syndactyly, short nose, epicanthus, bilateral single transverse palmar creases, wide intermamillary distance, abnormality of the skin, delayed speech and language development; gene n.d.
 
  01-
WmU-seg-
p36.12/

1-1
n.a. postnatal PBL n.a.
-----
duplication and triplication in 1p36.12 and UPD
n.a. {908}
case Decipher_257814
 
  01-
WmU-seg-
p13.1~11.2/

1-1
male newborn PBL 46,XY
------
1p13.1~11.2 to 1qter
Hutchinson-Gilford progeria syndrome (gene LMNA in 1q22) {403} case 1  
  01-
WmU-seg-
p13/

1-1
n.a. n.a. n.a. n.a.
------
1p13
Leber Congenital Amaurosis (gene RPE65 in 1p31.3) {710} case 1  
  01-
WmU-seg-
q21.3/

1-1
male newborn PBL n.a.
--------
1q21.3 to 1q23.1
Restrictive dermopathy-like phenotype (gene LMNA in 1q22) {683}