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

CASES WITH UNIPARENTAL DISOMY
- maternal UPD 16 -

 

      
 

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

[nbp]

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

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  04-
OmU-imb/
1-1
n.a. pernatal Ch; PBL

Ch: 47,XX,rob(13;14),+16[100%]
PBL at 2.5 years
46,XX,rob(13;14)

normal child at almost 2 years {963} case 2
 
                 

  


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 thoughts about UPD(16) see Ref 993

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  16-
WmU-N/
1-1
female prenatal placenta/ missed abortion 46,XX missed abortion {237} case 18  
  16-
WmU-N/
2-1
male prenatal AF , CH 46,XY IUGR {251} case 3  
  16-
WmU-N/
2-2
n.a. postnatal PBL n.a. IUGR ?? {301} 1 case  
  16-
WmU-N/
2-3
n.a. prenatal AF n.a. IUGR; Bart's hydrops fetalis {373}  
  16-
WmU-N/
2-4
n.a. postnatal PBL n.a. IUGR, transient neonatal hypoglycemia and cholestasis {847}  
  16-
WmU-N/
3-1
male postnatal PBL n.a. no IUGR; Malonyl-CoA decarboxylase deficiency (gene MLYCD in 16q23.3)
{254}  
  16-
WmU-N/
4-1
n.a. postnatal PBL n.a. no IUGR; macular corneal dystrophy (gene CHST6 in 16q23.1) {503}  
  16-
WmU-N/
5-1
male prenatal AF 46,XY single umbilical arteria, single kidney, abnormal genital. IUGR. iUPD but no gene detected
{573} case 21  
  16-
WmU-N/
6-1
female postnatal AF; PBL 46,XX no IUGR; adenine phosphoribosyltransferase deficiency (gene APRT in 16q24.3)
{632}  
  16-
WmU-N/
7-1
n.a. postnatal PBL n.a. no IUGR; mucopolysaccharidosis IVA (gene GALNS in 16q24.3) {659}
 
  16-
WmU-N/
8-1
n.a. prenatal AF n.a. no IUGR; alpha thalassemia (gene either HBA1 or HBA2 in 16p13.3)
{775} case 1  
  16-
WmU-N/
9-1
female 18y PBL n.a. no IUGR; atypical neuropathy (gene GAN1 in 16q23.2) {822}  
  16-
WmU-N/
10-1
n.a. prenatal AF 46,XN Hb Barts Disease (gene HBA1 or HBA2 in 16p13.3) {926}  
  16-
WmU-N/
11-1 to 11-2
male 16y, 10y PBL n.a. Fanconi anemia
(gene FANCA in 16q24.3)
{937} cases 2-3
 
  16-
WmU-N/
12-1
female 2y PBL n.a. Fanconi anemia
(gene FANCP/SLX4 in 16p13.3)
{937} case 4
 
  16-
WmU-N/
13-1 to 13-2
female and male 6 and 9 y PBL n.a. no IUGR; Hereditary spastic paraplegias (gene FA2H in 16q23.1)
{956} 2 cases  
  16-
WmU-N/
14-1 to 14-4
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  
  16-
WmU-
sSMC/

1-1
16-W-
p11.1/
3-1
male/
prenatal
AF 47,XY,+mar[27]/
46,XY[5]
r(16)(::p11.1q11.2::) cenM, subcenM Dandy Walker Cyst and brainmalformations; TOP {0} case provided by Drs. Prager and Junge (Dresden, Germany)  
  16-
WmU-
sSMC/

2-1
16-O-
p11.21/
1-1
male/
prenatal
AF 47,inv(X)(p11.4p22.3)Y,
+mar[18]/
46,inv(X)(p11.4p22.3)Y[7]
min(16)(:p11.21q11.1:)
FISH
-data: RP11-67I10 (26.11) on sSMC
cenM; subcenM see below {432}  
  Amniocentesis due to advanced  maternal age; spontaneous birth in week 39 of gestation; Apgar ?/10(10, weight 2960g; apart from posterior plagiocephaly no indication for malformations; IUGR?  
                     

 


References

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

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  16-
WmU-
imb/
1-1
n.a. newborn placenta and PBL placenta: 47,+16[100%]
PBL: 46[100%]
intrauterine growth retardation (IUGR) {49} case 3  
  16-
WmU-
imb/
1-2
n.a. newborn placenta and AF placenta : 47,+16[100%]
AF: 46[100%]
intrauterine growth retardation (IUGR) {49} case 4  
  16-
WmU-
imb/
1-3
female prenatal placenta and fetal tissues CH; and at birth: 47,XX,+16[34]/46,XX[14]
fetal tissues: 46,XX[100%]
intrauterine growth retardation (IUGR), TOP {49} case 1; {50} case 1;
{52} case 7
 
  16-
WmU-
imb/
1-4
male newborn CH and PBL CH; and at birth: 47,XY,+16[8]/46,XY[20] intrauterine growth retardation (IUGR) {49} case 2; {50} case 2;
{52} case 16
 
  16-
WmU-
imb/
1-5
male newborn placenta
PBL
placenta at birth: 47,XY,+16[283]/46,XY[244]
PBL: 46,XY[100%]
intrauterine growth retardation (IUGR), multiple dysmorphies, died at 20 weeks {49} case 5; {51}  
  16-
WmU-
imb/
1-7
female prenatal AF 47,XX,+16/46,XX intrauterine growth retardation (IUGR); facial abnormalities {91}  
  16-
WmU-
imb/
1-8
female prenatal AF 47,XX,+16/46,XX intrauterine growth retardation (IUGR); facial abnormalities, others {92}  
  16-
WmU-
imb/
1-9
to 14
n.a. prenatal AF/CH;
placenta
47,+16/46 in CH and or placenta intrauterine growth retardation (IUGR) {53} cases, 1 2, 4, 5, 8, 9; = {86} cases n.a. 91.14, CPM92.25, n.a. , n.a. , 92.49  
  16-
WmU-
imb/
1-15
female prenatal CH 47,XX,+16/46,XX fetal death in week 20 {53; 85} case 1; {86} case CPM16-8  
  16-
WmU-
imb/
1-16
male prenatal AF 47,XY,+16[1]/46,XY[25] intrauterine growth retardation (IUGR); postnatal growth retardation {56}  
  16-
WmU-
imb/
1-17
male prenatal AF 47,XY,+16[5]/46,XY[25] intrauterine growth retardation (IUGR); TOP {57} case 1
 
 
  16-
WmU-
imb/
1-18
n.a. postnatal n.a. n.a. n.a. paternity testing {83}  
  16-
WmU-
imb/
1-20
female prenatal CH 47,XX,+16/46,XX intrauterine growth retardation (IUGR); inguinal hernia {87}  
  16-
WmU-
imb/
1-21
female prenatal CH 47,XX,+16/46,XX intrauterine growth retardation (IUGR); unilateral talipes {88}  
  16-
WmU-
imb/
1-22
female prenatal CH 47,XX,+16/46,XX intrauterine growth retardation (IUGR); ASD, VSD {89}  
  16-
WmU-
imb/
1-23
to 25
n.a. prenatal CH; 47,+16/46 intrauterine growth retardation (IUGR); {86} cases 93.94, 95.28, 93.43  
  16-
WmU-
imb/
1-26
female prenatal CH 47,XX,+16/46,XX intrauterine growth retardation (IUGR); unilateral talipes, mild facial abnormities {90}  
  16-
WmU-
imb/
1-27
female prenatal AF 47,XX,+16/46,XX intrauterine growth retardation (IUGR); facial abnormities, others, TOP {94} case XIV-2  
  16-
WmU-
imb/
1-28
male prenatal AF 47,XX,+16/46,XX intrauterine growth retardation (IUGR); hypospadia {94} case XIV-11  
  16-
WmU-
imb/
1-29
to 30
n.a. prenatal AF 47,+16/46 n.a. {86} cases 96.32 and 94.50  
  16-
WmU-
imb/
1-31
n.a. prenatal placenta, AF placenta: 47,+16
AF: 46
body stalk anomaly {132}  
  16-
WmU-
imb/
1-32
n.a. prenatal placenta, AF placenta: 47,+16
AF: 46
dysmorphic signs; TOP {186}  
  16-
WmU-
imb/
1-33
male prenatal placenta, AF placenta: 47,+16
AF: 46
IUGR {194} 1 case  
  16-
WmU-
imb/
1-34
to 36
n.a. prenatal placenta, AF placenta: 47,+16
AF: 46
IUGR {220} cases 1, 7, 10  
  16-
WmU-
imb/
1-37
female prenatal CH, AF CH: 47,XX,+16
AF: 46,XX
slight IUGR {251} case 2; {252}case 17  
  16-
WmU-
imb/
1-38
to 44
male and female prenatal CH, AF CH: 47,+16
AF: 46
IUGR {306} 7 cases  
  16-
WmU-
imb/
1-45
male prenatal CH, AF, PBL CH: 47,XX,+16/46,XX
AF: 47,XX,+16/46,XX
IUGR {320}  
  16-
WmU-
imb/
1-46
female prenatal CH, AF CH: 47,XX,+16/46,XX
AF: 46,XX
IUGR, TOP {334}  
  16-
WmU-
imb/
1-47
n.a. prenatal CH, AF CH: 47,XX,+16/46,XX
AF: 46,XX
IUGR, TOP {398}  
  16-
WmU-
imb/
1-48
male prenatal AF AF: 47,XY,+16/46,XY IUGR; mentally normal {472}  
  16-
WmU-
imb/
1-49
female prenatal AF; placenta AF: 46,XX
placenta: 47,XX,+16/46,XX
IUGR; TOP {520}  
  16-
WmU-
imb/
1-50
to 52
1x female
2x male
prenatal AF; placenta placenta: 47,+16/46 IUGR (1x TOP) {556} cases 33-35  
  16-
WmU-
imb/
1-53
n.a. prenatal CH 47,+16/46 n.a. {619} case 33  
  16-
WmU-
imb/
1-54
female prenatal AF AF: 46,XX[44]
iFISH:47,XX,+16[2]/46,XX[48]
short femora and reverse flow in the ductus venosus
{963}
case 1
 
  16-
WmU-
imb/
1-55
n.a. prenatal CH; AF AF: 46,XX[90]
CH: 47,XX,+16[26]
IUGR; lost during follow-up  {963}
case 3
 
  16-
WmU-
imb/
2-1
n.a. prenatal CH, AF CH: 48,+8,+16/47,+16 IUGR, TOP {306} case 93.48  
  16-
WmU-
imb/
3-1
n.a. prenatal CH CH: 47,XXY/46,XX
in normal cell line mat UPD 16 and mat UPD X
IUGR, TOP {306} case 93.48  
  16-
WmU-
imb/
4-1
male newborn PBL 46,XY,der(1)t(1;16)(p36.6;p13.1)/46.XY
segmental UPD 16q
newborn with facial dysmorphismn and trus hermaphroditism {527}  
  16-
WmU-
imb/
5-1
male newborn PBL 46,XY,t(10;16)(q11.2;q11.1)mat[22]/47,idem,+16[4]
UPD 16 in cells with 46 chromosomes
IUGR and postnatal some minor abnormalities {371}  
                 

 


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  
  16-WmU-seg-pter/
1-1
female n.a. PBL n.a.
-----
16pter to 16p13.13
congenital disorder of glycosylation type Ia (gene PMM2 in 16p13.2) {651} case 3