FISH

CASES WITH UNIPARENTAL DISOMY

-  UPD  -

 

 

 

 

 

 Sorry we had to move again

 

new presence at http://upd-tl.com/Start.html

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

NOW >2,300 cases collected
For detailed figures click here

Created by Dr. Thomas Liehr (PhD),
Institute of Human Genetics, 07740 Jena, Germany; e-mail:

last update: 04.11.2013

 we have ~100 visitors per month


How to cite this database: If you use the information contained in this website, please cite as follows:
Liehr T. 201
X. Cases with uniparental disomy.
http://www.fish.uniklinikum-jena.de/UPD.html. [accessed
XX/XX/XXXX]


  References


 

 

 

 

AIMS OF THIS PAGE

 

PATIENT AND USER INFORMATION

Patient organizations   How to use this page? 

BASIC INFORMATION ON UPD

What is UPD 
A definition:
When was the first description of UPD?  

 

How to test for UPD?

 Frequency
of UPD:

UPD BY CHROMOSOME

     UPD 1 
      mat
      pat
    mat/pat

 UPD 2 
mat
pat
mat/pat
UPD 3 
mat
pat
mat/pat
UPD 4 
mat
pat
mat/pat
UPD 5 
mat
pat
mat/pat
UPD 6 
mat
pat
mat/pat
UPD 7 
mat
pat
mat/pat
UPD 8 
mat
pat
mat/pat
UPD 9 
mat
pat
mat/pat
UPD 10 
mat
pat
mat/pat
UPD 11 
mat
pat
mat/pat
UPD 12 
mat
pat
mat/pat
UPD 13 
mat
pat
mat/pat
UPD 14 
mat
pat
mat/pat
UPD 15 
mat
pat
mat/pat
UPD 16 
mat
pat
mat/pat
UPD 17 
mat
pat
mat/pat
UPD 18 
mat
pat
mat/pat
UPD 19 
mat
pat
mat/pat
UPD 20 
mat
pat
mat/pat
UPD 21 
mat
pat
mat/pat
UPD 22 
mat
pat
mat/pat
UPD X 
mat
pat
mat/pat
 UPD Y 
mat
pat
mat/pat
UPD XX mat
UPD XY pat
UPD XX/XY mat/pat
 UPD mat 
all genome
UPD pat 
all genome

 

 

 

 

 

 

 


Aim of this page

 

1. collect all available case reports on uniparental disomy (UPD) in clinical cases; i.e. UPD in tumor and leukemia are not of interest in this page; also not included are acquired but non-cancer-related disorders with UPD (e.g. {738}).

2. provide information for patients and clinicians

 

 

 


 

PATIENT AND USER INFORMATION

 

Links for families with a child having a UPD related disorder

 

  • Network Imprinting defects     

     http://www.research4rare.de/en/research_networks/netzwerk-imprintingerkrankungen/
     contact:

  • UNIQUE = rare chromosome disorder support group

    http://www.rarechromo.org/

  • CONTACT a family - for families with disabled children

    http://www.cafamily.org.uk/rda-uk.html

 

 

    Angelman Syndrome

 

  • Angelman New Zealand

     http://www.angelman.co.nz/

  •  Angelman Syndrome Association of Australia

    http://www.angelmansyndrome.org/home.html

  • Angelman Syndrome Foundation   

    http://www.angelman.org/

  • ASSERT - Angelman Syndrome Support Education and Research Trust

    http://www.angelmanuk.org/

 

 

    Beckwith-Wiedemann Syndrome

 

  • Associazione Italiana Sindrome di Beckwith-Wiedemann

    http://www.aibws.org/

  • Beckwith-Wiedemann Support Group

    http://www.bws-support.org.uk/
  • Beckwith-Wiedemann syndrome Support Group

    http://www.mdjunction.com/beckwith-wiedemann-syndrome

  • European chromosome 11 network

    http://www.chromosome11.eu/

 

    Prader-Willi Syndrome

 

  • International Prader-Willi Syndrome Association

    http://www.ipwso.org/

  • Prader-Willi-Syndrome Association (USA)

    http://www.pwsausa.org/

  • Prader-Willi-Syndrome Association (UK)

   http://www.pwsa.co.uk/

  • Prader-Willi-Syndrom-Vereinigung (PWSV) Deutschland e.V. (German site)

    http://www.prader-willi.de

  • Prader-Willi-Syndrome in Romania (Romanian site and English translation)

     http://www.apwromania.ro  or http://apwromania.ro/index_en.php 

  • Prader-Willi-Syndrome Assoziation (NZ)

    http://www.pws.org.nz/

 

    Silver Russel Syndrome

 

  • The Magic foundation

    http://www.magicfoundation.org/

  • Human Growth Foundation

    http://www.hgfound.org/

  • Restricted Growth Association

    http://restrictedgrowth.co.uk/

  • Child Growth Foundation

    http://www.childgrowthfoundation.org/

 


 

 How to use this page

This page is organized like the 'sister-page' on small supernumerary marker chromosomes (sSMC) - the structure is explained here

 

 

 

 

 


 References

BASIC INFORMATION ON UPD

 

 

What is a UPD?/ What does UPD?

 

Uniparental disomy (UPD) is the presence of a chromosome pair derived only from one parent in a disomic cell line. UPD is one form of aberrant origin for disomic cells. Uniparental disomy can involve homozygosity for the chromosome, and the term isodisomy has been suggested for this phenomenon {456; 757}. If uniparental chromosomes are heterozygote this is called heterodisomy.

Isodisomy is important to be distinguished from heterodisomy, as isodisomy can lead to the activation of recessive gene-mutations.

Hetero- and isodisomy can be present in case a disease is present due to an imprinting defect. For known imprinted genes see http://www.geneimprint.com/site/genes-by-species.Homo+sapiens or http://igc.otago.ac.nz/Search.html UPD (in some tissues) also may evolve during lifetime and lead to a (non-cancer) disease; mostly this appears during embryogenesis; rarely this may lead to progression during lifetime {549; 555; 580; 581; 621}.

Also there are hints that UPD is more likely to take place in children born by older mothers {584; 550-551}.

Extremely rarely UPD may be present in mosaic in the germline {737; 740} and inheritance of UPD within families {235; 284; 741}.

Obvioulsy, if there is a duplication or triplication of genetic material this is / may go together with a UPD - there are some cases tested for this and reported {749; 750}.

 


References

 When was the first UPD described?

 

The concept of uniparental disomy (UPD) was introduced in 1980 into medical genetics by Eric Engel {456}. In 1987 later Créau-Goldberg et al. {395} described a case with maternal origin of a de novo balanced t(21q;21q) identified by an ets-2 polymorphism, which was the first case of UPD proven by molecular methods. 

 


References

Guidelines for UPD testing

 

Guidelines were developed for UPD testing in Canada. The guidelines were circulated for comment to the CCMG members at large and following appropriate modification, approved by the CCMG Board of Directors (July 2010) {553}.

 

 

 


 References

Frequency of UPD

Acc. to {447} 1 UPD case was found in 160 prenatal cases, testing overall 264 chromosomes

Acc. to {163} UPD is found in 0.4% of 2019 (develop)mentally retarded children studied by genome wide SNP-based array-CGH.

UPD 14 was found in 3.6% of 335 balstomeres and normal karyotype, while it was found in 34% of 35 blastomeres studied with constitutional inv(9) {636}.

Rate of segmental UPD was estimated to be one per 3806 chromosome pairs (0.026%) {702}

 

 

Frequency of UPD according to their chromosomal and partental origin {based on this page}

 

 

Frequency of maternal UPD {based on this page}

 

                 
 

Chromosome 

normal karyotype
(suggested or tested)
abnormal balanced karyotype abnormal unbalanced karyotype sSMC presence segmental UPD IN SUMMARY  
  mat # 1

              9

- - 1 3 14  
  mat # 2 13 2 4 - 3 23  
  mat # 3 4 1 - 1 1 7  
  mat # 4 5 2 1 1 4 13  
  mat # 5 1 - - - - 1  
  mat # 6 7 - 2 1 2 10  
  mat # 7 136 2 5 6 12 182  
  mat # 8 3 - 3 - - 6  
  mat # 9 7 1 8 1 1 18  
  mat #10 1 - 2 1 - 4  
  mat #11 2 - 1 - 3 6  
  mat #12 1 - 3 2 - 6  
  mat #13 2 3 1 - 2 8  
  mat #14 16 34 8 4 4 66  
  mat #15 914 14 18 24 1 971  
  mat #16 8 - 57 2 1 67  
  mat #17 2 - 1 - 1 4  
  mat #18 - - - - 1 1  
  mat #19 - - - - - 0  
  mat #20 1 - 2 2 - 5  
  mat #21 6 2 4 - - 12  
  mat #22 3 4 5 2 1 15  
  mat X 2 - 26 - 2 29  
  mat Y - - - - - 0  
  mat all chrs.

reported benign cystic ovary cases not included here; other 3

3  
  Summary  1163 65 148 48 43 1565  
 

Chromosome 

normal karyotype
(suggested or tested)
abnormal balanced karyotype abnormal unbalanced karyotype sSMC presence segmental UPD IN SUMMARY  
                 

 

 

 

 

Frequency of paternal UPD {based on this page}

 

                 
  Chromosome  normal karyotype(suggested or tested) abnormal balanced karyotype abnormal unbalanced karyotype UPD and sSMC segmental UPD IN SUMMARY  
  pat # 1 20 1 - - 4 25  
  pat # 2 12 - 1 - 2 14  
  pat # 3 2 - - - - 2  
  pat # 4 2 - - - 1 3  
  pat # 5 1 - - - 2 3  
  pat # 6 97 - 4 1 4 106  
  pat # 7 6 - 1 - 2 9  
  pat # 8 3 - - - 2 5  
  pat # 9 1 - 1 - - 2  
  pat #10 1 - - - - 1  
  pat #11 192 - 2 - 125 319  
  pat #12 1 - 1 - - 2  
  pat #13 2 4 1 - 2 9  
  pat #14 49 9 1 1 4 64  
  pat #15 85 15 1 3 - 103  
  pat #16 4 - 3 - - 7  
  pat #17 1 - - - 1 2  
  pat #18 1 - - - 1 2  
  pat #19 - - - - - 0  
  pat #20 4 - 1 1 6 13  
  pat #21 1 2 1 - - 4  
  pat #22 3 1 - - 1 5  
  pat X 3 - 9 - - 12  
  pat Y 1 - (XYY cases not listed) - - 1  
  pat all chrs. 25 - 3 - - 28  
  Summary  507 32 28 6 144 729  
  Chromosome  normal karyotype
(suggested or tested)
abnormal balanced karyotype abnormal unbalanced karyotype sSMC presence segmental UPD IN SUMMARY  
                 

 

 

 

Frequency of maternal or paternal UPD {based on this page}

 

                 
 

Chromosome 

normal karyotype(suggested or tested) abnormal balanced karyotype abnormal unbalanced karyotype UPD and sSMC segmental UPD IN SUMMARY  
  mat or pat # 1 1 - - - 3 4  
  mat or pat # 2 2 - - - 5 7  
  mat or pat # 3 - - - - 1 1  
  mat or pat # 4 - - - - - 0  
  mat or pat # 5 - - - - - 0  
  mat or pat # 6 1 - - - 1 2  
  mat or pat # 7 - - - 1 2 3  
  mat or pat # 8 1 - - 2 - 3  
  mat or pat # 9 - - - - 2 2  
  mat or pat #10 - - - - - 0  
  mat or pat #11 - - - - 2 2  
  mat or pat #12 - - - - 1 1  
  mat or pat #13 1 - - - 1 2  
  mat or pat #14 - - - - 2 2  
  mat or pat #15 - - - - 3 3  
  mat or pat #16 - - - - 2 2  
  mat or pat #17 - - - - 4 4  
  mat or pat #18 - - - - - 0  
  mat or pat #19 - - - - 1 1  
  mat or pat #20 - - - - - 0  
  mat or pat #21 - - - - 1 1  
  mat or pat #22 1 - - - 1 2  
  mat or pat X - - - - - 0  
  mat or pat Y - - - - - 0  
  mat or pat all chrs. - - - - - 0  
 

Summary 

7 0 0 3 32 42  
 

Chromosome 

normal karyotype
(suggested or tested)
abnormal balanced karyotype abnormal unbalanced karyotype sSMC presence segmental UPD IN SUMMARY