dc.contributor.author
Chantot-Bastaraud, Sandra
dc.contributor.author
Stratmann, Svea
dc.contributor.author
Brioude, Frederic
dc.contributor.author
Begemann, Matthias
dc.contributor.author
Elbracht, Miriam
dc.contributor.author
Graul-Neumann, Luitgard
dc.contributor.author
Harbison, Madeleine
dc.contributor.author
Netchine, Irene
dc.contributor.author
Eggermann, Thomas
dc.date.accessioned
2018-06-08T10:32:52Z
dc.date.available
2017-09-18T11:42:18.271Z
dc.identifier.uri
https://refubium.fu-berlin.de/handle/fub188/20632
dc.identifier.uri
http://dx.doi.org/10.17169/refubium-23933
dc.description.abstract
Background Maternal uniparental disomy (UPD) of chromosome 7 (upd(7)mat)
accounts for approximately 10% of patients with Silver-Russell syndrome (SRS).
For upd(7)mat and trisomy 7, a significant number of mechanisms have been
proposed to explain the postzygotic formation of these chromosomal
compositions, but all have been based on as small number of cases. To obtain
the ratio of isodisomy and heterodisomy in UPDs (hUPD, iUPD) and to determine
the underlying formation mechanisms, we analysed a large cohort of upd(7)mat
patients (n = 73) by SNP array typing. Based on these data, we discuss the
UPDs and their underlying trisomy 7 formation mechanisms. Results A whole
chromosome 7 maternal iUPD was confirmed in 28.8%, a mixture or complete
maternal hUPD in 71.2% of patients. Conclusions We could demonstrate that
nondisjunction mechanism affecting chromosome 7 are similar to that of the
chromosomes more frequently involved in trisomy (and/or UPD), and that
mechanisms other than trisomic rescue have a lower significance than
previously suspected. Furthermore, we suggest SNP array typing for future
parent- and cell-stage-of origin studies in human aneuploidies as they allow
the definite classification of trisomies and UPDs, and provide information on
recombinational events and their suggested association with aneuploidy
formation.
en
dc.rights.uri
http://creativecommons.org/licenses/by/4.0/
dc.subject.ddc
600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit
dc.title
Formation of upd(7)mat by trisomic rescue
dc.type
Wissenschaftlicher Artikel
dcterms.bibliographicCitation
Molecular Cytogenetics. - 10 (2017), Artikel Nr. 28
dc.title.subtitle
SNP array typing provides new insights in chromosomal nondisjunction
dcterms.bibliographicCitation.doi
10.1186/s13039-017-0329-1
dcterms.bibliographicCitation.url
http://doi.org/10.1186/s13039-017-0329-1
refubium.affiliation
Charité - Universitätsmedizin Berlin
de
refubium.mycore.fudocsId
FUDOCS_document_000000027983
refubium.note.author
Der Artikel wurde in einer reinen Open-Access-Zeitschrift publiziert.
refubium.resourceType.isindependentpub
no
refubium.mycore.derivateId
FUDOCS_derivate_000000008758
dcterms.accessRights.openaire
open access