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

CASES WITH UNIPARENTAL DISOMY
- paternal UPD 6 -

 

      
 

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

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  06-
WpU-N/
1-1
female newborn PBL 46,XX transient neonatal diabetes mellitus = TNDM
{111}  
  06-
WpU-N/
1-2
female newborn PBL n.a. TNDM {130} patient A
{510} 1case
 
  06-
WpU-N/
1-3
male 4m PBL 46,XY TNDM {136} patient 1  
  06-
WpU-N/
1-4
female 4m PBL; fibroblasts 46,XX TNDM {148, 153}  
  06-
WpU-N/
1-5 to 6
n.a. newborn PBL n.a. TNDM {152, 256, 257} 2 cases  
  06-
WpU-N/
1-7
female newborn PBL 46,XX TNDM {155}  
  06-
WpU-N/
1-8
female 9y PBL 46,XX TNDM, normal at 6 y {156}  
  06-
WpU-N/
1-9
female newborn PBL 46,XX TNDM {187}  
  06-
WpU-N/
1-10
n.a. newborn PBL n.a. TNDM {188}  
  06-
WpU-N/
1-11
n.a. newborn PBL n.a. TNDM {210} family 3, {211} family A  
  06-
WpU-N/
1-12
male newborn PBL (n.a.) TNDM {266}  
  06-
WpU-N/
1-13
female newborn PBL n.a. TNDM {267}  
  06-
WpU-N/
1-14
n.a. newborn PBL n.a. TNDM {6} case B  
  06-
WpU-N/
1-15
n.a. childhood PBL n.a. TNDM; normal child; tested due to paternity testing {377}  
  06-
WpU-N/
1-16
male newborn PBL n.a. TNDM {380}  
  06-
WpU-N/
1-17
female newborn PBL 46,XX TNDM {465}  
  06-
WpU-N/
1-18
male neweborn PBL n.a. TNDM, relapse at 15 y {496}  
  06-
WpU-N/
1-19
n.a. newborn PBL n.a. TNDM {510} 1 case  
  06-
WpU-N/
1-20
n.a. 6m PBL n.a. TNDM(mixed h-i-UPD 6) {619} case 17  
  06-
WpU-N/
1-21
n.a. 3y 3 m PBL n.a. TNDM add. features of unclear genesis (mixed h-i-UPD 6) {619} case 18  
  06-
WpU-N/
1-22
male newborn PBL n.a. TNDM {643} 1 case  
  06-
WpU-N/
1-23
n.a. newborn PBL n.a. TNDM {652} case 16  
  06-
WpU-N/
1-24
n.a. newborn PBL n.a. TNDM {655} 1 case  
  06-
WpU-N/
1-25 to 26
n.a. newborn PBL n.a. TNDM {689} 2 cases  
  06-
WpU-N/
1-27 to 93
male and female newborn PBL n.a. TNDM
{728} 66 cases  
  06-
WpU-N/
1-94 to 96
n.a. n.a. PBL n.a. TNDM {913} patients 1-3  
  06-
WpU-N/
1-97 to 98
n.a. n.a. PBL n.a. TNDM {947} cases 75, 97  
  06-
WpU-N/
1-9
9
n.a. newborn PBL n.a. TNDM {971}  
  06-
WpU-N/
2-1
n.a. newborn PBL n.a. TNDM and cholestasis and paucity of interlobular bile ducts (no gene identified)
{233}  
  06-
WpU-N/
3-1
female 9y PBL 46,XX TNDM and systemic Lupus erythematosus (gene C4A in 6p21.33)
{378, 379}  
  06-
WpU-N/
4-1
male newborn PBL 46,XY TNDM and complex syndrome including complete IFN-gamma receptor 1 deficiency (gene IFNGR1 in 6q23.3)
{464}  
  06-
WpU-N/
5-1
n.a. newborn PBL n.a. TNDM and 3M syndrome, low birth weight (gene CUL7 in 6p21.1)
{494} case 30  
  06-
WpU-N/
6-1
n.a. newborn PBL n.a. TNDM and oligohydraminos, hydrops fetalis with echocardiographic findings of the pulmonary stenosis and hypoplastic right heart. The newborn had whole body edema (iso-UPD 6 -no gene identified) {619} case 5  
  06-
WpU-N/
7-1 to 7-3
n.a. n.a. n.a. n.a. n.a. {982}  
                 

 


References

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

 

NO REPORTS YET

 


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  
  06-
WpU-
sSMC/
1-1
06-
W-p21.2/
1-1
female/
1m
PBL
cell line at ECACC DD1261
47,XX,+r[37]/
46,XX[13]
r(6)(::p21.2q10::)* all centromeric probes; wcp 6; midi see below {6} case A, {7}, {8} case 5  
  IUGR in week 35; Birth by cesarean section in week 38; Birth weight 1,8kg, Apgar 6/8/-; protuberant tongue; slightly prominent clitoris and anteriorly placed anus, small umbilical hernia; TNDM; smiling at 6m, sitting at 7.5m, standing with support 1y; At 2y8m epicantic folds, thicker upper lip and prominent cheeks  
                     

 


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  
  06-
WpU-
imb/
1-1
female newborn PBL 47,XXX TNDM {453}  
  06-
WpU-
imb/
2-1
male newborn PBL 47,XXY TNDM {463}  
  06-
WpU-
imb/
3-1
n.a. newborn AF 47,+6/46 TNDM (iso-UPD 6) {619} case 6  
  06-
WpU-
imb/
3-2
female prenatal AF, placenta, PBL AF: 47,XX,+6[3]/46,XX[27]
placenta: 47,XX,+6
PBL: 46,XX
TNDM {631} case 6  
                 

 


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  
  06-WpU-seg-pter/
1-1
female postnatal PBL n.a.
-----
6pter to 6q10
normal female with hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency (gene CYP21A2 in 6p21.33)
{249}  
  06-WpU-seg-q22.2/
1-1
female postnatal PBL n.a.
-----
6q22.2 to 6qter
TNDM and
merosin-deficient congenital muscular dystrophy (gene LAMA2 in 6q22.33) ; twin sister normal
{827}  
  06-WpU-seg-q23.2/
1-1
female twins newborn PBL 46,XX (monozygote)
-----
6q23.2 to 6qter
TNDM {583}  
  06-WpU-seg-q23.3/
1-1
male newborn PBL 46,XY
-----
6q23.3 to 6qter
TNDM {147}  
  06-WpU-seg-q24/
1-1
n.a. postnatal PBL n.a.
-----
6q24 to ?6q24
TNDM {492}