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  >2,630 cases included
Created by Dr. Thomas Liehr (PhD)
professional affiliation: Institute of Human Genetics, 07740 Jena, Germany;
e-mail: Thomas.Liehr@med.uni-jena.de or: LiehrT@web.de
last update: 28.09.2014
 

How to cite this database:
Liehr T. 201
X. Cases with uniparental disomy.
http://upd-tl.com/upd.html [accessed XX/XX/XXXX]


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References


 

     
  AIM OF THIS PAGE  
  PATIENT AND USER INFORMATION  
  Patient organizations   How to use this page?  
  BASIC INFORMATION ON UPD  
  definition of UPD first description   diagnostic testing UPD-frequency  
  UPD BY CHROMOSOME  
  UPD 1
mat
pat
unclear
UPD 2
mat
pat
unclear
UPD 3
mat
pat
unclear
UPD 4
mat
pat
unclear
UPD 5
mat
pat
unclear
UPD 6
mat
pat
unclear
UPD 7
mat
pat
unclear
UPD 8
mat
pat
unclear
UPD 9
mat
pat
unclear
 
  UPD 10
mat
pat
unclear
UPD 11
mat
pat
unclear
UPD 12
mat
pat
unclear
UPD 13
mat
pat
unclear
UPD 14
mat
pat
unclear
UPD 15
mat
pat
unclear
UPD 16
mat
pat
unclear
UPD 17
mat
pat
unclear
UPD 18
mat
pat
unclear
 
  UPD 19
mat
pat
unclear
UPD 20
mat
pat
unclear
UPD 21
mat
pat
unclear
UPD 22
mat
pat
unclear
UPD X
mat
pat
unclear
UPD Y
mat
pat
unclear
UPD XX
mat
pat
unclear
UPD XY
mat
pat
unclear
UPD all
mat
pat
unclear
 
  DISCLAIMER  

links helpful for diagnostics:

 


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

 

all UPD-related syndromes

UNIQUE = rare chromosome disorder support group

CONTACT a family - for families with disabled children

LEONA - Verein für Eltern chromosomal geschädigter Kinder e.V. (German site)

Valentin APAC

Unique Danmark

Chromosome Disorder Outreach (CDO)

Living with Trisomy

 

Network Imprinting defects

 

contact: bernhard.hosthemke@uni-due.de


 

Angelman Syndrome

Angelman Syndrome Foundation

Angelman New Zealand

Angelman Syndrome Association of Australia

 

ASSERT - Angelman Syndrome Support Education and Research Trust

Dutch Angelman Syndrome Association

The Angelman project


Beckwith-Wiedemann Syndrome

Associazione Italiana Sindrome di Beckwith-Wiedemann

Beckwith-Wiedemann children foundation


Prader-Willi Syndrome

International Prader-Willi Syndrome Association

Prader-Willi-Syndrome Association (USA)

Prader-Willi-Syndrome Association (UK)

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

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

Prader-Willi-Syndrome Assoziation (NZ)

 

Silver Russel Syndrome

The Magic foundation

Human Growth Foundation

Restricted Growth Association

Child Growth Foundation

 


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}.

Interstingly, acquired UPD was seen as a rescue mechanism to get rid of ring chromosomes in stem celllines {819}.

 


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

iUDP in mentally retarded is ~0.13% {828}
i.e. 14,574 cases were studied for congenital aberrations and/or chromosomal aberrations by SNP-aCGH {828}: 19 cases with complete or segmental iUPD identified; 12 with iUPD(15), 7 with iUPD of other chromosomes and recessive gene activation.
regions of homozygozyty (ROH = potential iUPD) were found in following percentages;
in 6% one or more ROH of >10Mb
   -> 78% of those suggested to be due not to iUPD
   -> 22% involving a single chromosome


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

Acc. to {817} 2 iUPDseg cases were found in 268 spontaneous abortion cases.

Acc. to {163} UPD is found in 0.4% of 2,019 (develop)mentally retarded children studied by genome wide SNP-based array-CGH.

Acc. to {797} UPD is found in 0.56% of 1,075 (develop)mentally retarded children studied by genome wide SNP-based array-CGH in trios - i.e 5 complete and 1 segmental.

Acc. to {815} UPD is found in 0% of 322 (develop)mentally retarded children studied by genome wide SNP-based array-CGH in trios.

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 3,806 chromosome pairs (0.026%) {702}

 

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

 

Frequency of UPD
{based on this page}

                                           
 

chromosome

normal
karyotype or not tested

abnormal
balanced
karyotype

abnormal
unbal.
karyotype

sSMC
presence

segm.
UPD

IN SUMMARY  
 

mat

pat uncl.

mat

pat uncl.

mat

pat uncl.

mat

pat uncl.

mat

pat uncl. mat pat uncl. all  
  1 12 17 1 - 1 - - - - 1 - 1 4 5 3 17 23 5 45  
  2 12 11 2 2 - - 4 1 - - - - 3 2 5 21 14 7 42  
  3 5 2 - 1 - - - - - 1 - - 1 - 1 8 2 1 11  
  4 5 2 - 2 - - 1 - - 1 - 1 4 1 - 13 3 1 17  
  5 1 2 1 - - - - - - 1 - - - 2 - 2 4 1 7  
  6 7 97 1 - - - 2 4 - 1 1 - 2 5 1 12 107 2 121  
  7 142 6 - 2 - - 6 1 - 7 - 1 11 2 2 168 9 3 180  
  8 3 4 2 1 - - 3 - - - - 2 - 2 - 7 7 4 17  
  9 8 1 2 1 - - 8 1 4 1 - - 1 - 3 20 2 8 30  
  10 2 1 - - - - 2 - - 1 - - - - - 5 1 0 6  
  11 2 415 1 - - - 1 2 - - - - 4 150 2 7 567 3 577  
  12 1 1 - - - - 3 - - 2 - - - - 1 6 1 1 8  
  13 2 2 2 3 4 - 1 1 1 - - - 2 2 1 8 9 4 21  
  14 23 52 2 34 8 - 8 2 - 4 1 - 5 4 2 74 67 4 145  
  15 984 97 - 15 16 - 17 - - 25 4 - 2 - 4 1043 117 4 1164  
  16 11 4 3 - - - 57 3 - 2 - - 1 - 3 71 7 6 84  
  17 2 1 - - - - 1 - - - - - 1 1 4 4 2 4 10  
  18 - 2 2 - - - 1 - 1 - - - 1 1 1 2 3 3 9  
  19 - - - - - - - - 1 - - - - - 1 0 0 2 2  
  20 1 4 3 - - - 2 1 - 2 1 - - 6 - 5 12 3 20  
  21 6 2 - 2 2 - 4 1 - - - - - - 1 12 5 1 18  
  22 4 2 1 5 2 - 5 - - 2 - - 1 1 2 17 5 3 25  
  X 2 4 - - - - 27 9 1 - - - 2 - - 31 13 1 45  
  Y - - - - - - - - - - - - - - - 0 0 0 0  
  all chrs. - 27 - 1 - - 2 3 - - - - - - - 3 30 0 33  
  summary 1233 756 26 69 33 0 155 29 8 51 7 5 46 184 34 1554 1010 74 2636  
 

chromosome

mat

pat uncl.

mat

pat uncl. mat pat uncl. mat pat uncl.

mat

pat uncl. mat pat uncl. all  
 

normal
karyotype or not tested

abnormal
balanced
karyotype

abnormal
unbal.
karyotype

sSMC
presence

segm.
UPD

IN SUMMARY