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

CASES WITH UNIPARENTAL DISOMY
- maternal UPD 14 -

 

      
 

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 review of Temple syndrome (TS) see {837}

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  14-
WmU-N/
1-1
male 3m PBL 46,XY short stature, mat UPD 14 syndrome = Temple syndrome (TS)
{95} case 2  
  14-
WmU-N/
1-2
male 7y PBL 46,XY TS {215}  
  14-
WmU-N/
1-3
n.a. postnatal PBL n.a. TS {175}  
  14-
WmU-N/
1-4
n.a. postnatal PBL n.a. TS {177}  
  14-
WmU-N/
1-5
female 27y PBL 46,XX TS {193} case 28  
  14-
WmU-N/
1-6 to 8
1x male 2x female 2-4y PBL 46,XX or 46,XY TS {219} cases 2-4  
  14-
WmU-N/
1-9 to 11
1x male 2x female ~10y PBL 46,XX or 46,XY TS {19} cases 4, 5, 9  
  14-
WmU-N/
1-12 to 13
n.a. ~10y PBL n.a. TS {19} cases 8, 10  
  14-
WmU-N/
1-14
female 30y PBL 46,XX TS {286} case 2  
  14-
WmU-N/
1-15
n.a. postnatal PBL n.a. TS, see below
{763} case 261229  
  Abnormality of macular pigmentation, truncal obesity, intellectual disability, mild sensorineural hearing impairment, moderately short stature, diabetes mellitus, abnormality of the toenails
 
  14-
WmU-N/
1-16
n.a. postnatal PBL n.a. TS {810}  
  14-
WmU-N/
1-17
female 25y PBL 46,XX TS {172}  
  14-
WmU-N/
1-18
male 15y PBL 46,XY TS {811}  
  14-
WmU-N/
1-19
n.a. postnatal PBL n.a. TS {812}  
  14-
WmU-N/
1-20
n.a. postnatal PBL n.a. TS {857}  
  14-
WmU-N/
1-21 to 1-22
n.a. postnatal PBL n.a. TS {872; 941} 2 cases  
  14-
WmU-N/
1-23
n.a. postnatal PBL n.a. TS {903} 1 case  
  14-
WmU-N/
1-24
male 4y PBL 46,XY,inv(9)(p11q13) TS {940}  
  14-
WmU-N/
1-25
female 15y PPBLBL n.a. TS {946}  
  14-
WmU-N/
1-26
n.a. postnatal PBL n.a. TS {947} case 45  
  14-
WmU-N/
1-27
n.a. postnatal PBL n.a. TS
isoUPD 14 in 14q24.3-q32.33 rest most likely hUPD
{962} 1 case  
  14-
WmU-N/
1-28
female 2y PBL n.a. TS resembling SRS
{988}  
  14-
WmU-N/
2-1
female 3y PBL 46,XX
mosaic of cells with and without UPD
TS {219} case 5  
  14-
WmU-N/
3-1
male postnatal PBL n.a. TS; alpha 1-antitrypsin deficiency (gene SERPINA1 in 14q32.13)
{482; 788}  
  14-
WmU-N/
3-2
male postnatal PBL n.a. TS; alpha 1-antitrypsin deficiency (gene SERPINA1 in 14q32.13) {788}  
  14-
WmU-N/
4-1
n.a. 3.5 y PBL n.a. TS; congenital ichthyosis 1 (gene TGM1 in 14q12) {619} case 11  
  14-
WmU-N/
5-1 to 5-2
n.a. n.a. n.a. n.a. n.a. {982}  
                 

N.B.: TS can also be due to a microdeletionin 14q32.2 {802}   


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  
  14-
WmU-
bal/
1-1
female 6y PBL 45,XX,der(13;14)(q10;q10) TS {344}  
  14-
WmU-
bal/
1-2
female postnatal PBL 45,XX,der(13;14)(q10;q10) TS {143}  
  14-
WmU-
bal/
1-3
n.a. postnatal PBL 45,XN,der(13;14)(q10;q10) TS {174}  
  14-
WmU-
bal/
1-4
male postnatal PBL 45,XY,der(13;14)(q10;q10)mat TS {179}  
  14-
WmU-
bal/
1-5
female 4y PBL 45,XX,der(13;14)(q10;q10) TS {205}  
  14-
WmU-
bal/
1-6
n.a. prenatal Af 45,der(13;14)(q10;q10) TS {461}  
  14-
WmU-
bal/
1-7
n.a. prenatal AF 45,der(13;14)(q10;q10) n.a. {323} 1 case  
  14-
WmU-
bal/
1-8
male postnatal PBL 45,XYder(13;14)(q10;q10) TS {6; 346}  
  14-
WmU-
bal/
1-9
female postnatal PBL 45,XX,der(13;14)(q10;q10) TS {426}  
  14-
WmU-
bal/
1-10
female postnatal PBL 45,XX,der(13;14)(q10;q10)mat TS {427}  
  14-
WmU-
bal/
1-11
male postnatal PBL 45,XY,der(13;14)(q10;q10)mat TS {428}  
  14-
WmU-
bal/
1-12
male 3y PBL 45,XY,der(13;14)(q10;q10) TS {429}  
  14-
WmU-
bal/
1-13
female 9y PBL 45,XX,der(13;14)(q10;q10)dn TS {77}
{506} case 1
 
  14-
WmU-
bal/
1-14
n.a. n.a. n.a. 45,der(13;14)(q10;q10)dn TS {466} 1 case  
  14-
WmU-
bal/
2-1
female 9m PBL 45,XX,der(14;14)(q10;q10) TS; nystagmus; achromatopsia or rod monochromacy (gene on chromosome 8)
{41; 385} case Ar-150-04  
  14-
WmU-
bal/
2-2
male 9m PBL 45,XY,der(14;14)(q10;q10)* TS {165}  
  14-
WmU-
bal/
2-3
male 20y PBL 45,XY,der(14;14)(q10;q10)dn TS; diabetes mellitus {230; 231}  
  14-
WmU-
bal/
2-4
male prenatal AF 45,XY,der(14;14)(q10;q10)dn TS {270}  
  14-
WmU-
bal/
2-5
female 2y AF 45,XX,der(14;14)(q10;q10) TS {286} case 1  
  14-
WmU-
bal/
2-6
female newborn PBL 45,XX,der(14;14)(q10;q10) TS {289}  
  14-
WmU-
bal/
2-7
male n.a. PBL 45,XY,der(14;14)(q10;q10) TS {304} case 8  
  14-
WmU-
bal/
2-8
male ~5y PBL 45,XY,der(14;14)(q10;q10) TS {353}  
  14-
WmU-
bal/
2-9
male 19y PBL 45,XY,der(14;14)(q10;q10) TS, MODY diabetes {439}  
  14-
WmU-
bal/
2-10
female prenatal AF 45,XX,der(14;14)(q10;q10)dn heterotaxia, polysplenia; TOP {431}  
  14-
WmU-
bal/
2-11
n.a. n.a. n.a. 45,der(14;14)(q10;q10)dn TS {466} 1case  
  14-
WmU-
bal/
2-12 to 13
n.a. n.a. n.a. 45,der(14;14)(q10;q10) TS {466} 1case  
  14-
WmU-
bal/
2-14
female prenatal AF 45,XX,der(14;14)(q10;q10) TS {0} case provided by Dr. G. Thiel, Berlin, Germany  
  14-
WmU-
bal/
3-1
n.a. postnatal PBL 45,der(14;15)(q10;q10)mat TS {98} 1 case  
  14-
WmU-
bal/
4-1
female 7y PBL 45,XX,der(14;21)(q10;q10)mat TS {95} case 1  
  14-
WmU-
bal/
4-2
male 1y PBL 45,XY,der(14;21)(q10;q10)dn TS {19} case 1  
  14-
WmU-
bal/
4-3
female 2.5y PBL 45,XX,der(14;21)(q10;q10)mat TS {19} case 2  
  14-
WmU-
bal/
4-4
n.a. prenatal AF 45,XY,der(14;21)(q10;q10) TS {312} 1 case  
  14-
WmU-
bal/
5-1
female prenatal AF 45,XY,der(14;22)(q10;q10)mat TS {447}  
                 

 


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  
  14-WmU-
sSMC/

1-1
14-W-
q11.1
~11.2/
1-1
male/
prenatal
AF and PBL 47,XY,+mar[100%] min(14)(pterq11.1~q11.2:) different FISH-probes: subcenM see below {19} case 3; {0}  
  Amniocentesis due to abnormal triple test; child born in week 29 - birth weight 950g (10.th centile), length 37 cm (25th centile), OFC 26.3 (25th centile), Apgar 7/7; hypotonia up to 18 months of age-developmental delay; no mental retardation; at 4y all values <3rd centile (height 85cm, weight 11.5 kg, OFC 47,5 cm); microcephaly, simian crease, developmental delay, small stature, hypotonic; TS
 
  14-WmU-
sSMC/

2-1
14-
CW-2
male/
prenatal
AF 47,XY,+mar[100%] mar(14) n.a. see below {19} case 7  
  Amniocentesis due to advanced maternal age; normal child born; weight 2910g, length 51cm, OFC 34cm; no further information available  
  14-WmU-
sSMC/

3-1
14-W-
q11.1/
3-1
male/
31y
PBL 47,XY,+mar[26]/ 46,XY[4] min(14)(pterq11.1:) acrocenM, subcenM male with short stature and adipositas, TS
{0} case provided by Dr. A. Küchler, Essen, Germany  
  14-WmU-
sSMC/

4-1
14-
U-21
female/
newborn
PBL 47,XX,+mar[8]/
46,XX[18]
r(14)(::p11.2q12::)*
aCGH: break in q12: 30.94MB
maternal UPD 14; sSMC derived from paternal chromosome 14
SKY, array-CGH West syndrome {643}  
  14-WmU-
sSMC/

5-1
14-
U-39
female/
2y
PBL 47,XY,+mar[?%]/
46,XX[?%]
mar(14) aCGH Left hand agenesis, Hypotonia, Atrial Septal Defect (ASD) and dysmorphic features (hypertelorism, micrognathia, low-set ears) {896} case 6  
                     

 


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  
  14-WmU-
imb/1-1
female 5y PBL 46,XX
acc. to molecular genetics there must be a cell line 47,XX,+14
TS {144}  
  14-WmU-
imb/1-2
n.a. postnatal? PBL/ CH 46,XN
initially 47,XN,+14
TS {176}  
  14-WmU-
imb/1-3
n.a. postnatal? PBL/ CH 46,XN
initially 47,XN,+14
TS {178}  
  14-WmU-
imb/1-4
female prenatal AF/ placenta 47,XX,+14/46,XX fetal in utero death {298}  
  14-WmU-
imb/1-5
female prenatal AF/ placenta/ PBL 47,XX,+14/46,XX TS {317}  
  14-WmU-
imb/1-6
female prenatal AF 47,XX,+14/46,XX n.a. {324}  
  14-WmU-
imb/1-7
female 9y PBL 47,XX,+14/46,XX TS {941} case 1  
  14-WmU-
imb/1-8
male 10y PBL 47,XY,+14[1]/
46,XY[99]
interphase 22/200
TS {958}  
  14-WmU-
imb/2-1
male 15y PBL 45,X[9%]/46,XY[91%] TS {19} case 6  
  14-WmU-
imb/3-1
female postnatal PBL 47,XXX TS {748}  
                 

 


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  
  14-WmU-
seg/
1-1
n.a. n.a. PBL n.a.
-----
exact localization not reported - only size of 12 MB
hypotonia, facial asymmetry, assymetric cerebellum {652} case 20  
  14-WmU-seg-q13/
1-1
male newborn PBL 46,XY
-----
14q13 to 14q31
growth retardation pre and postnatal, macrocephaly, hypoplastic mandible, clinodactyly, generalized muscular hypotoniam slight developmental delay, incarcerated inguinal hernia, death at 6 months due to aspiration pneumonia {158} case 1  
  14-WmU-seg-q23/
1-1
female child PBL n.a.
-----
14q23 to 14q24.2
TS {394}  
  14-WmU-seg-q24.2/
1-1
male 26y PBL 46,XY
-----
14q24.2 to 14qter
TS {679}  
  14-WmU-seg-q32/
1-1
male 6y PBL 46,XY
-----
14q32
TS features {623}