ChromosOmics - Database
linked via https://omictools.com/uniparental-disomy-tool
OMICX
                                                                      ~4880 cases included                                                                         
COUNTER

How to cite this database:
-
Liehr T. 2022. Cases with uniparental disomy.
http://cs-tl.de/DB/CA/UPD/0-Start.html
[accessed on ...]


Visitors
  

last update: 27. August 2022

[VG-Wort (32879fd38ca4a3dabd93212d7017caf)]

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.dein



AIM OF THIS PAGE
PATIENT AND USER INFORMATION
Patient organizations UPD-frequency 
and
number of reported cases
How to use this page?
Definition of UPD First description Diagnostic testing
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
ABOUT IMPRINTING
DISCLAIMER

links helpful for diagnostics:


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References

Aim of this page

1.
collect all available case reports on uniparental disomy (UPD) in clinical cases; i.e. UPD in tumor (e.g. {909} and leukemia are not of interest in this page; also not included are acquired but non-cancer-related disorders with UPD (e.g. {738; 1022; 1032; 1323; 1343}).
Interstingly also some known inherited syndromes can be acquired as well - i.e. present as mosaic state {299; 1036; all whole genomic UPDs - see link1 , link2 and link3}

2.
provide information for patients and clinicians.

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.

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.
H
etero- and isodisomy can be present in case a disease is present due to an imprinting defect -> see here.

UPD (in some tissues) also may evolve during lifetime and lead to a (non-cancer) disease {1135}; mostly this appears during embryogenesis; this may also lead to progression during lifetime {549; 555; 580; 581; 915; 1062; 1128; 1154}. Also UPD seems to be frequent as confined placental mosaicism {1076}.

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

Interestingly in leukemia recently telomere shortening was positively correlated to development of UPD {917}!

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; 998}.

UPD changes the methylation profile of the cell {982}.

It was shown that UPD may be acquired during live time - esp. in 4q and 14q {991; 992}.

Interestingly, rarely, reverting UPD may lead to spontaneous remission of diseases {
621 =1121; 1120; 1122}.

In 12/39 cases with UPD in any of the imprinted chromosomes
(30.8%), skewed X-chromosome inactivation was observed {1176}.

UPD may play a role in brain - as tissue specific UPD {1242}.

Impact and frequency of UPD in in vitro-fertilization is still a matter of discussion {1275}.

In {1294} a murine
inducible uniparental chromosome disomy (UPD) system is presented.

In {
1374} it is highlighted that UPD is a chromosomic disorder.

PATIENT AND USER INFORMATION

Reviews on UPD: see 1228, 1229, 1278


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

ASSERT - Angelman Syndrome Support Education and Research Trust

Dutch Angelman Syndrome Association

The Angelman project

Angelman-Verein (German)


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

A global Alliance for Silver-Russel syndrome

The Magic foundation

Human Growth Foundation

Restricted Growth Association

Child Growth Foundation

Silver-Russel-Syndrom (German)


How to use this page?

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

Frequency of UPD

In 214,915 trios of normal population 105 cases of whole chromosome UPD was found, this is a rate of 1 in 2000 births  {1082}. For double UPDs (2 chromosomes at same time) they estimate a frequency of 1 in 50,000 births.
UPD rate in
patients with abnormal phenotypes (neurodev. disorders) was 2 in 1000 acc. to {1213}.
In 32,067 parent-child trios (children were index patients with abnormal phenotypes =
neurodev. disorders) 99 cases with whole chr. UPD and 13 with segmental UPD were found; i.e. 3 in 1000 {1300}. Patients were pre-studied collective where some UPD cases have been found before by other tests and not included here in this exome based sequencing approach. Isodisomy:heterodisomy:mixed:segmental UPD was 39:15:45:13 {1300}.
Overall they found 199 individuals with UPD (199 single and 6 double UPDs) in 916,712 parent-child duos. There were examples for all chromosomes except for 18 and Y.
Paternal versus maternal UPD was observed at a rate of 1 to 3
{1082}.
The overall 205 cases from Fig. 2 of this study {1082}
were not included in this page due to lack of clinical data. However most frequent there was UPD(16)mat, which would support the view, that chromosome 16 does not underly imprinting.
In {1273} UPD(21) was possible to be suggested in 2 out of 116,224 trio exams for paternity testing.

UPD 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.

No increased rates of UPD (examplified in PWS patients) was found after assisted reproduction techniques {918}.

Acc. to {447} 1 UPD case was found in 160 prenatal cases, testing overall 264 chromosomes.
Acc. to {1289}
7 UPD cases were found in 4512 prenatal cases, testing all chromosomes by SNP-array.
Acc. to {1352} 0 UPD cases were found in 6,766 clinical trophectoderm biopsies, testing all chromosomes by NGS-based chromosomal analysis.

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 and 11/836 = 1.3% acc to {896}.

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} and 2/3401 had iso-UPD for all chromosomes and no heterodisomy = 0.06% {999}. Already in 2010 no UPD was found in 50 studied blastomeres {1000}.

Rate of segmental UPD was estimated to be one per 3,806 chromosome pairs (0.026%) {702}
however, in 14/267 (5.2%) mentally impaired patients hints on UPDs of 1-1.5 Mb in size {924}.

Rate of UPD in discarded morphologically abnormal embryos 9/241 - 5 euploid and 4 aneuploid {898}.

In 3/
967 trophectoderm biopsies UPD was found in {1131}.

Rate of UPD in miscarriages 9/468 = 1.9% {1042}

Rate of UPD in 651 sonographic abnormal fetuses was 2/651 = 0.3% {899}.

Rate of UPD (no chromosome specified) in obese people 12/1068 {1255}

UPD is reported in offspring of balanced chromosomal rearrangements - in 2019 {1169} found only 1/1747 UPD(14)mat case where one parent had a Robertsonian translocation involving chromosomes 14, or 15; only UPD 14 and 15 were excluded. From that UPD risk in such cases is suggested to be ~0.06%.

UPD(mat) to UPD(pat) has a rate of 9:1 acc. to {1319}.


Frequency of UPD (based on this page)



no karyotype
most likely normal
normal
karyotype
abnormal
balanced
karyotype
abnormal
unbalanced
karyotype
sSMC segmental all IN SUMMARY
chr. mat pat uncl. mat pat uncl. mat pat uncl. mat pat uncl. mat pat uncl. mat pat uncl. mat pat uncl. all
1 16 29 18 9 10 9 0 1 0 4 0 10 2 0 2 4 6 7 35 46 46 127
2 26 25 7 5 3 10 1 0 0 6 1 3 1 0 0 4 2 6 43 31 26 100
3 8 3 3 1 2 8 1 0 0 1 1 2 1 0 0 2 0 3 14 6 16 36
4 13 3 2 2 2 1 2 0 0 2 0 3 1 0 1 6 2 1 26 7 8 41
5 5 4 3 1 3 2 0 0 0 1 1 3 1 0 0 1 4 2 9 12 10 31
6 14 98 1 6 11 1 0 0 0 6 4 0 1 1 0 3 6 7 30 120 9 159
7 354 8 1 32 2 0 7 0 0 2 1 1 9 0 1 16 2 12 420 13 15 448
8 5 6 5 2 2 4 0 0 0 3 3 3 1 0 2 1 2 4
12 13 18 44
9 6 4 1 6 0 1 1 0 0 9 4 6 1 1 0 2 0 5 25 9 13 47
10 6 2 0 1 1 0 0 0 0 2 1 2 1 0 0 1 0 0 11 4 2 17
11 1 561 2 3 3 0 0 0 0 4 4 1 0 0 0 5 227 9 13 795 12 820
12 2 2 2 0 1 0 0 0 0 3 0 1 2 0 0 0 0 3 7 3 6 16
13 4 3 3 1 0 0 3 4 0 1 2 3 0 0 0 4 2 3 13 11 9 33
14 47 35 1 17 27 9 36 8 0 16 3 2 7 1 0 7 5 12 130 79 24 233
15 1558 225 2 222 47 18 25 21 0 30 3 9 27 7 0 3 3 11 1865 306 40 2211
16 35 9 6 8 2 15 0 0 0 62 3 8 2 0 0 1 0 6 108 14 35 157
17 4 1 0 1 0 0 2 0 0 1 0 3 0 0 0 4 2 7 12 3 10 25
18 0 2 2 0 1 1 0 0 0 2 1 1 1 0 0 1 0 3 4 4 7 15
19 0 1 2 0 1 1 0 0 0 0 0 1 0 0 0 0 0 2 0 2 6 8
20 19 12 4 2 1 4 0 0 0 3 1 0 4 1 0 1 9 2 29 24 10 63
21 3 1 1 5 2 0 2 2 0 6 2 2 0 0 0 0 0 1 16 7 4 27
22 10 2 2 0 2 10 5 2 0 5 1 4 2 1 1 1 0 4 23 8 21 52
X 2 2 0 3 5 1 1 0 0 29 9 3 0 0 0 2 1 0 37 17 4 58
Y 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
all chrs. 5 25 0 1 76 1 0 0 0 3 6 0 0 0 0 0 0 0 9 107 1 117
summary 2143 1063 68 328 204 96 86 38 0 201 51 71 64 12 7 69 273 110 2891 1641 352 4884




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