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dc.contributor.author Beke Artúr
dc.contributor.author Pikó Henriett
dc.contributor.author Haltrich Irén
dc.contributor.author Csomor Judit
dc.contributor.author Matolcsy András
dc.contributor.author Fekete György
dc.contributor.author Rigó János
dc.contributor.author Karcagi Veronika
dc.date.accessioned 2014-11-24T15:13:27Z
dc.date.available 2014-11-24T15:13:27Z
dc.date.issued 2013
dc.identifier 84890542673
dc.identifier.citation pagination=62, 8 pages; journalVolume=6; journalIssueNumber=1; journalTitle=MOLECULAR CYTOGENETICS;
dc.identifier.uri http://repo.lib.semmelweis.hu//handle/123456789/478
dc.identifier.uri doi:10.1186/1755-8166-6-62
dc.description.abstract BACKGROUND: One of the frequent reasons for unsuccessful conception is premature ovarian failure/primary ovarian insufficiency (POF/POI) that is defined as the loss of functional follicles below the age of 40 years. Among the genetic causes the most common one involves the X chromosome, as in Turner syndrome, partial X deletion and X-autosome translocations. Here we report a case of a 27-year-old female patient referred to genetic counselling because of premature ovarian failure. The aim of this case study to perform molecular genetic and cytogenetic analyses in order to identify the exact genetic background of the pathogenic phenotype. RESULTS: For premature ovarian failure disease diagnostics we performed the Fragile mental retardation 1 gene analysis using Southern blot technique and Repeat Primed PCR in order to identify the relationship between the Fragile mental retardation 1 gene premutation status and the premature ovarion failure disease. At this early onset, the premature ovarian failure affected patient we detected one normal allele of Fragile mental retardation 1 gene and we couldn't verify the methylated allele, therefore we performed the cytogenetic analyses using G-banding and fluorescent in situ hybridization methods and a high resolution molecular cytogenetic method, the array comparative genomic hybridization technique. For this patient applying the G-banding, we identified a large deletion on the X chromosome at the critical region (ChrX q21.31-q28) which is associated with the premature ovarian failure phenotype. In order to detect the exact breakpoints, we used a special cytogenetic array ISCA plus CGH array and we verified a 67.355 Mb size loss at the critical region which include total 795 genes. CONCLUSIONS: We conclude for this case study that the karyotyping is definitely helpful in the evaluation of premature ovarian failure patients, to identify the non submicroscopic chromosomal rearrangement, and using the array CGH technique we can contribute to the most efficient detection and mapping of exact deletion breakpoints of the deleted Xq region.
dc.relation.ispartof urn:issn:1755-8166
dc.title Molecular cytogenetic analysis of Xq critical regions in premature ovarian failure.
dc.type Journal Article
dc.date.updated 2014-11-10T19:02:40Z
dc.language.rfc3066 en
dc.identifier.mtmt 2493921
dc.identifier.pubmed 24359613
dc.contributor.department SE/ÁOK/K/II. Sz. Gyermekgyógyászati Klinika
dc.contributor.department I. Sz. Szülészeti és Nőgyógyászati Klinika
dc.contributor.department I. Sz. Patológiai és Kísérleti Rákkutató Intézet
dc.contributor.institution Semmelweis Egyetem


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