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AuthorLeybrand, Sabinedc.contributor.author
Date of accession2016-03-14T15:22:54Zdc.date.accessioned
Available in OPARU since2016-03-14T15:22:54Zdc.date.available
Year of creation2008dc.date.created
AbstractThis work reports on a patient with severe mental retardation, dysmorphic features as well as juvenile idiopathic arthritis. G-banding indicated two independent karyotypic anomalies in this patient: an interstitial deletion del(X)(p21p22.3) and a rearrangement involving the chromosomes 1 and 7 which represents a direct insertion, ins(7;1)(q36;p13.2p31.2). Non-random inactivation of the paternally derived del(X) chromosome was observed in blood lymphocytes and fibroblasts. High resolution analysis of the rearrangement involving the chromosomes 1 and 7 subsequently revealed the additional submicroscopic deletion of at least 5.1 Mb at the 1p13.2 breakpoint. The deletion occurred on the paternal chromosome and encompasses the PTPN22 gene, already known to be associated with juvenile idiopathic arthritis. My findings underline the importance of closely investigating the breakpoint regions of apparently balanced rearrangements in patients with abnormal phenotypes since complex chromosomal rearrangements may turn out to be unbalanced.dc.description.abstract
Languagededc.language.iso
PublisherUniversität Ulmdc.publisher
LicenseStandard (Fassung vom 01.10.2008)dc.rights
Link to license texthttps://oparu.uni-ulm.de/xmlui/license_v2dc.rights.uri
Keyword1p13.2-Deletiondc.subject
KeywordKomplexes chromosomales Rearrangementdc.subject
KeywordPrimär chronische juvenile Polyarthritisdc.subject
KeywordPTPN22dc.subject
KeywordXp-Deletiondc.subject
Dewey Decimal GroupDDC 610 / Medicine & healthdc.subject.ddc
MeSHProtein tyrosine phosphatase, non-receptor type 22dc.subject.mesh
TitleMolekular-zytogenetische Charakterisierung komplexer, struktureller Chromosomenaberrationen bei einer Patientin mit schwerer mentaler Retardierung, chronischer Polyarthritis und physischen Dysmorphiendc.title
Resource typeDissertationdc.type
DOIhttp://dx.doi.org/10.18725/OPARU-1554dc.identifier.doi
PPN590376330dc.identifier.ppn
URNhttp://nbn-resolving.de/urn:nbn:de:bsz:289-vts-66722dc.identifier.urn
GNDChromosomenaberrationdc.subject.gnd
FacultyMedizinische Fakultätuulm.affiliationGeneral
Date of activation2009-01-20T14:44:58Zuulm.freischaltungVTS
Peer reviewneinuulm.peerReview
Shelfmark print versionZ: J-H 13.099; W: W-H 11.548uulm.shelfmark
DCMI TypeTextuulm.typeDCMI
VTS-ID6672uulm.vtsID
CategoryPublikationenuulm.category
University Bibliographyjauulm.unibibliographie


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