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

CASES WITH UNIPARENTAL DISOMY
- maternal UPD 7 -

 

      
 

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

for clinical differences of SRS due to UPD(7)mat and 11p15 hypomethylation see {929}

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  07-
WmU-N/
1-1
female prenatal PBL 46,XX Silver-Russel-syndrome (= SRS) {43}  
  07-
WmU-N/
1-2 to 4
1 n.a., 1 female 1 male postnatal PBL n.a. SRS {100} cases RSS-11; RSS-44, {534} 3 cases  
  07-
WmU-N/
1-5 to 9
n.a. postnatal PBL n.a. SRS {104; 105; 774}  
  07-
WmU-N/
1-10 to 15
4x female and 1x male; 4x n.a. postnatal PBL n.a. SRS {114; 115; 116; 119; 160; 164; 171; 767}  
  07-
WmU-N/
1-16 to 18
n.a. postnatal PBL n.a. SRS {159}  
  07-
WmU-N/
1-19
n.a. pre- and postnatal AF PBL n.a. SRS {194} case 44  
  07-
WmU-N/
1-20 to 23
n.a. postnatal PBL n.a. SRS {201, 202} 4 cases  
  07-
WmU-N/
1-24
n.a. postnatal PBL n.a. SRS {202} 1 case  
  07-
WmU-N/
1-25 to 26
n.a. postnatal PBL n.a. SRS {217} 2 cases  
  07-
WmU-N/
1-27
n.a. postnatal PBL n.a. SRS {234} 1 case  
  07-
WmU-N/
1-28 to 30
n.a. postnatal PBL n.a. SRS {238} 3 cases  
  07-
WmU-N/
1-31 to 34
n.a. postnatal PBL n.a. SRS {239} 4 cases; {240} these 4 plus 5 cases  
  07-
WmU-N/
1-35 to 39
n.a. postnatal PBL n.a. SRS {260; 261; 262; 263; 349} overall 4 cases  
  07-
WmU-N/
1-40
male prenatal AF 46,XY SRS {269}  
  07-
WmU-N/
1-41 to 42
n.a. postnatal PBL n.a. SRS {279} 2 cases  
  07-
WmU-N/
1-43
moved to 07-WmU-N/9-2 {293}  
  07-
WmU-N/
1-44 to 45
n.a. postnatal PBL 46,XN SRS {295} 2 cases  
  07-
WmU-N/
1-46 to 50
n.a. postnatal PBL 46,XN SRS {296} 5 cases  
  07-
WmU-N/
1-51
n.a. postnatal PBL n.a. SRS {313} 1 case  
  07-
WmU-N/
1-52 to 54
2 male and 1 female prenatal AF 46,XN SRS; placental hypoplasia {389; 731} 3 cases  
  07-
WmU-N/
1-55
n.a. n.a. n.a. n.a. SRS {457}  
  07-
WmU-N/
1-56 to 57
n.a. n.a. n.a. n.a. SRS {458}  
  07-
WmU-N/
1-58 to 62
n.a. n.a. n.a. n.a. SRS {475}  
  07-
WmU-N/
1-63
n.a. n.a. n.a. n.a. SRS {478}  
  07-
WmU-N/
1-64
female 10y PBL n.a. SRS {135}  
  07-
WmU-N/
1-65 to 84
male and female postnatal PBL n.a. SRS {577} 20 cases  
  07-
WmU-N/
1-85 to 88
n.a. 5m to 9y PBL n.a. SRS (mixed h-i-UPD 7 of different extents) {619} cases 19-22  
  07-
WmU-N/
1-89 to 96
n.a. postnatal PBL n.a. SRS (mixed h-i-UPD 7 of different extents) {622} 8 cases  
  07-
WmU-N/

1-97
male 4.5y PBL 46,XY SRS {629}  
  07-
WmU-N/
1-98 to 105
n.a. postnatal PBL 46,XN SRS (also 3 extraordinary cases) {639} 8 cases
{662; 731}
 
  07-
WmU-N/

1-106 to 115
n.a. postnatal PBL n.a. SRS
{675}  
  07-
WmU-N/
1-116 to 118
n.a. postnatal PBL n.a. SRS {700}  
  07-
WmU-N/
1-119
n.a. postnatal PBL n.a. SRS {729}  
  07-
WmU-N/
1-120 to 124
n.a. postnatal PBL 46,XN SRS {731}  
  07-
WmU-N/
1-125 to 126
n.a. postnatal PBL n.a. SRS {767} 2 cases  
  07-
WmU-N/
1-127 to 128
n.a. postnatal PBL n.a. SRS {774} 2 cases  
  07-
WmU-N/
1-129
n.a. postnatal PBL n.a.
only SNP-aCHG
SRS
isoUPD 7 in 7q11.2-q31
rest most likely hUPD
{842}  
  07-
WmU-N/
1-130
n.a. postnatal PBL n.a. SRS {853}  
  07-
WmU-N/
1-131
to 1-140
n.a. postnatal PBL n.a. SRS {875} 10 cases  
  07-
WmU-N/
1-141
female 1y PBL n.a. SRS {896} case 7  
  07-
WmU-N/
1-142
male 3y PBL 46,XY SRS {896} case 8
 
 

07-
WmU-N/
1-143 to 1-144

n.a. postnatal PBL n.a. SRS {947} cases 83, 110
 
 

07-
WmU-N/
1-145

n.a. postnatal PBL n.a. SRS
isoUPD 7 in 7p11.2q21.3 and 7q32.1q36.1
rest most likely hUPD
{962} 1 case  
 

07-
WmU-N/
1-146 to 1-151

n.a. postnatal PBL n.a. SRS {970} 6 cases  
  07-
WmU-N/
2-1
male 4y PBL 46,XY short stature (SRS), cystic fibrosis (gene CFTR in 7q31.2) {38}  
  07-
WmU-N/
2-2
female newborn PBL n.a. SRS; cystic fibrosis (gene CFTR in 7q31.2)
{333}  
  07-
WmU-N/
2-3
male newborn PBL 46,XY SRS; cystic fibrosis (gene CFTR in 7q31.2) {402}  
  07-
WmU-N/
2-4
n.a. newborn PBL n.a. SRS; cystic fibrosis (gene CFTR in 7q31.2) {477}  
  07-
WmU-N/
3-1
male 30y PBL 46,XY SRS and Osteogenesis imperfecta (gene COL1A2 in 7q21.3)
{44; 515; 516}  
  07-
WmU-N/
4-1 to 4-2
female, male postnatal PBL 46,XN SRS, developmental verbal dyspraxia (gene FOXP2 in 7q31.1) {170} cases 12 and 13  
  07-
WmU-N/
5-1
n.a. postnatal PBL 46,XN SRS (?), recessive myotonia congenita (gene CLCN1 in 7q34)
{191} case 1; {486}  
  07-
WmU-N/
6-1
female 7y PBL n.a. SRS, myoclonus, infantile hypercalcaemia, bilateral Duane anomaly; partial iUPD - gene not found
{565}  
  07-
WmU-N/
7-1
n.a. 2y 5m PBL n.a. SRS ?, Premature birth (30 wks), urethral stenosis, developmental delay (iso-UPD 7) - no mutated gene found {619} case 7  
  07-
WmU-N/
8-1
n.a. 1y PBL n.a. SRS ?, (iso-UPD 7) - no mutated gene found
{619} case 8  
  07-
WmU-N/
8-2
male 5m PBL 46,XY SRS and Anderson's disease /chylomicron retention disease - no mutation in 5q31.1 in SAR1B gene normally causative for latter syndrome
{649}  
  07-
WmU-N/
9-2
n.a. postnatal PBL n.a. SRS and myoclonic dystonia-11 (gene SGCE in 7q21.3)
{724}  
  07-
WmU-N/
10-1
male postnatal PBL n.a. SRS; preaxial polydactyly type 1 (gene GLI3 in 7p14.1)
{293}  
  07-
WmU-N/
11-1
female 10m PBL n.a. SRS and Argininosuccinic acuria (ASA) (gene ASL in 7q11.21) {821}  
  07-
WmU-N/
12-1 to 12-2
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  
  07-
WmU-
bal/
1-1
female newborn PBL 46,XX,t(7;16)(q21;q24)mat SRS {154}  
  07-
WmU-
bal/
2-1 to 2
see 07-WmU-seg-q11/1-1 to 1-2    
  07-
WmU-
bal/
3-1
male 2y PBL 46,XX,t(7;13)(q11.2;q14)mat SRS {611; 646}
 
                 

 


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  
  07-
WmU-
sSMC/

1-1
07-W-
p12/
1-1
male/
4m
PBL 47,XY,+mar[4]/
46,XY[46]
min(7)(:p12p11.1:) cep probes
ELN-probe
Dystrophy, developmental delay, abnormal ears. {0} case provided by Dr. M. Volleth (Magdeburg, Germany)  
  07-
WmU-
sSMC/

2-1
07-W-
p11.2/
1-1

 

female/
5y
PBL 47,XX,+mar[15] min(7)(:p11.2q11.1:) cenM; subcenM see below {0} provided by Dr. Koehler, München, Germany  
  pre- and postnatal growth-retardation; height at age of 4.5 9cm below 3rd percentile, weight: 3kg below 3rd percentile; macrocephalus; macro cornea; Silver Russel syndrome confirmed by molecular genetics  
  07-
WmU-
sSMC/

3-1
07-W-
p11.2/
1-3
male/
1y
PBL 47,XY,+mar[9]/
46,XY[16]
min(7)(:p11.2q11.21:)* centromere-near BACs, centromeric probe 7 see below {9}  
  Intrauterine growth retardation from 34th week of pregnancy → birth induced at 38 weeks of gestation; birth weight 2305 g (<3rd percentile), length 45 cm (<10th percentile)and OFC 34 cm (50th percentile). At 1y, growth retardation: length 68 cm (<3rd percentile), weight 5740 g (<3rd percentile) OFC 45 cm (10-25th percentile). Triangular face, large, low set ears and mild psychomotor retardation; could not roll over or sit up alone → Silver Russel syndrome signs.  
  07-
WmU-
sSMC/

3-2
07-W-
p11.2/
1-4
male/
36y
PBL 47,XY,+mar[22]/
46,XY[7]
min(7)(:p11.2q11.21:)* centromere-near BACs, centromeric probe 7 Silver Russel syndrome, Myoclonus dystonia {196}  
  07-
WmU-
sSMC/

4-1
07-W-
p11.2/
2-1
n.a./
n.a.
PBL 47,+mar[4%]/
46[96%]
r(7)(::p11.2q21::)* centromere-probes, wcp 7 see below {10}  
  IUGR, caesarean section in week 33 of gestation, Silver Russel syndrome; twin brother normal (dizygote)  
  07-
WmU-
sSMC/

4-2
07-W-
p11.1/
2-2
female/
20m
PBL 47,XX,+mar[27%]/
46,XX[73%]
r(7)(::p11.1q11.2?2::)* FISH-probe wcp7 see below {11; 12}  
  birth weight 1020 g in week 34; intrauterine and postnatal growth retardation, no mental retardation (?); triangular face, micrognathia, hypertelorism, clinodactyly of 5th finger; Silver Russel syndrome confirmed by molecular genetics  
  07-
WmU-
sSMC/

4-3
07-
U-21
male/
3y
PBL 47,XY,+mar[75%]/
46,XY[25%]
min(7)(:q11.1p11.1:
:p11.1q11.21:)
cenM, subcenM SRS {0} provided by Dr. Yardin, Montpellier, France  
                     

 


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  
  07-
WmU-
imb/
1-1
female prenatal AF 47,XX,+7/46,XX SRS {103; 180}  
  07-
WmU-
imb/
1-2
female prenatal AF
chorion
47,XX,+7/46,XX in chorion
46,XX in AF
SRS {243}  
  07-
WmU-
imb/
1-3
n.a. prenatal; postnatal placenta 47,+7/46 in placenta SRS {261, 263} 1 case  
  07-
WmU-
imb/
1-4
male postnatal PBL, skin fibros 47,XY,+7/46,XY in skin
46,XY in PBL
SRS, Hirschsprung disease
(gene on 10q11.21)
{521}  
  07-
WmU-
imb/
1-5
male prenatal AF, placenta 47,XY,+7/46,XY child born, SRS {543; 832}  
  07-
WmU-
imb/
1-6
male postnatal PBL 47,XY,+7/46,XY SRS {608}  
  07-
WmU-
imb/
2-1
male 12y PBL 46,XY,del(10)(q11.22q11.23) SRS {986} case 9  
                 

 


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  
  07-WmU-
seg/
1-1
n.a. n.a. PBL n.a.
-----
exact localization not reported - only size of 19, 45 and 9 MB
Failure to thrive {652} case 17  
  07-WmU-
seg/
2-1
n.a. n.a. PBL n.a.
-----
exact localization not reported - only size of 9, 10, 32, 25 and 3 MB
growth retardation
{652} case 18  
  07-WmU-
seg-q11/
1-1
female prenatal AF; PBL 46,XX,i(7)(p10),i(7)(q10)
-----
7q10 to 7qter
growth retardation; SRS? {42}  
  07-WmU-
seg-q11/
1-2
male newborn PBL 46,XY,i(7)(p10),i(7)(q10)
-----
7q10 to 7qter
growth retardation; SRS? {415}  
  07-WmU-
seg-q11/
2-1
female 7y PBL 46,XX
-----
7q10 to 7q22
IUGR, SRS; cystic fibrosis (gene CFTR in 7q31.2)
{39; 40, 336}  
  07-WmU-
seg-q11.2/
1-1 to 2
male, female postnatal PBL n.a.
-----
7q11.2 to 7qter
SRS {161}  
  07-WmU-
seg-q21/
1-1
male 2y PBL 46,XY
-----
7q21 to 7qter, mosaic with normal cells
IUGR, SRS; cystic fibrosis (gene CFTR in 7q31.2)
{299}  
  07-WmU-
seg-q22/
1-1
female abortion tissue 46,XX
-----
7q22 to 7qter
spontaneous abortion {358} case 107  
  07-WmU-
seg-q31/
1-1
female postnatal PBL n.a.
-----
7q31 to 7qter
SRS {114; 115; 116; 767}  
  07-WmU-
seg-q31/
1-2
n.a. postnatal PBL n.a.
-----
7q31 to 7qter
SRS {200, 202}  
  07-WmU-
seg-q32/
1-1
male 3y PBL 46,XY
-----
7q32 to 7qter
SRS; also mat UPD-14 syndrome due to methylation defect in DLK1/GTL2 in 14q32 {661}