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dc.date.accessioned2013-03-12T08:40:23Z
dc.date.issued2012en_US
dc.date.submitted2012-06-15en_US
dc.identifier.citationGabrielsen, Ingvild. An unbalanced (X;22) translocation in a neurodevelopmentally delayed girl. Masteroppgave, University of Oslo, 2012en_US
dc.identifier.urihttp://hdl.handle.net/10852/11477
dc.description.abstractIntellectual disability/mental retardation occur in 2-3% of newborns in the general population. In 80% of the cases, the causes remain elusive. Improved molecular and cytogenetic techniques have enabled the detection of small chromosome abnormalities, which could explain the clinical features in mentally retarded individuals. The aim of this study was to perform a detailed chromosome analysis of a female patient with unexplained intellectual disability, seizures and delayed psychomotorical development. The patient’s chromosomes were analyzed by G-banding revealing an unbalanced translocation of chromosome X and 22. In addition, an isodicentric chromosome appeared in approximately 38% of the patient’s leucocytes. aCGH detected a 45.4 Mb deletion on one chromosome X, and the X-inactivation test revealed a highly skewed inactivation (96:4). Signs and symptoms of mild Turner Syndrome are usually seen in patients with partial deletion of a large region of the X chromosome. The symptoms in the patient analyzed within this thesis, however, did not match those expected in Turner Syndrome. FISH was used to map der(X) to search for potentially disrupted genes at the translocation breakpoint, and to determine the origin of the isodicentric chromosome. RNA sequencing suggested that the normal X chromosome was active and that der(X) was inactive in 96% of the patient’s leucocytes, respectively. A possible outcome from der(X) inactivation is the spread of the X-inactivation onto the translocated 22q material. SNP array was used to assess whether the patient was suffering from a recessive disease.eng
dc.language.isoengen_US
dc.titleAn unbalanced (X;22) translocation in a neurodevelopmentally delayed girl : Does the X-inactivation spread to chr22?en_US
dc.typeMaster thesisen_US
dc.date.updated2012-11-13en_US
dc.creator.authorGabrielsen, Ingvilden_US
dc.date.embargoenddate10000-01-01
dc.rights.termsDette dokumentet er ikke elektronisk tilgjengelig etter ønske fra forfatter. Tilgangskode/Access code Aen_US
dc.rights.termsforeveren_US
dc.subject.nsiVDP::473en_US
dc.identifier.bibliographiccitationinfo:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:dissertation&rft.au=Gabrielsen, Ingvild&rft.title=An unbalanced (X;22) translocation in a neurodevelopmentally delayed girl&rft.inst=University of Oslo&rft.date=2012&rft.degree=Masteroppgaveen_US
dc.identifier.urnURN:NBN:no-31538en_US
dc.type.documentMasteroppgaveen_US
dc.identifier.duo166402en_US
dc.contributor.supervisorEirik Frengen, Paul Grinien_US
dc.identifier.bibsys121849473en_US
dc.rights.accessrightsclosedaccessen_US
dc.identifier.fulltextFulltext https://www.duo.uio.no/bitstream/handle/10852/11477/1/Gabrielsen_Master.pdf


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