A small supernumerary marker chromosome, derived from chromosome 22, possibly associated with repeated spontaneous abortions

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dc.contributor.authorBalkan, M.
dc.contributor.authorIsi, H.
dc.contributor.authorGedik, A.
dc.contributor.authorErdemoglu, M.
dc.contributor.authorBudak, T.
dc.date.accessioned2024-04-24T17:24:22Z
dc.date.available2024-04-24T17:24:22Z
dc.date.issued2010
dc.departmentDicle Üniversitesien_US
dc.description.abstractWe report a phenotypically normal couple with repeated spontaneous abortions and without other clinical features. Clinical, hematological, biochemical, and endocrinological aspects of the couple did not reveal any abnormalities. The karyotype of the wife was normal (46,XX), while the husband was found to have an abnormal karyotype, 47,XY,+der(22) mat. The marker chromosome was familial and non-satellite. Although the potential risk of small supernumerary marker chromosomes for spontaneous abortions cannot be defined precisely, marker chromosomes, together with methods used for ascertainment, are also factors to be considered when investigating infertility consequences. Furthermore, identification of the origin of a marker chromosome may provide additional information for patient karyotype-phenotype correlations. Further studies, such as molecular analyses to identify the breakpoint, are necessary for investigating phenotype-genotype correlations and assessment of genetic risks for small secondary chromosomes. The cause of repeated spontaneous abortions in this couple might be the presence of this marker chromosome in the husband. Consequently, we recommended genetic counseling before further pregnancies.en_US
dc.identifier.doi10.4238/vol9-3gmr947
dc.identifier.endpage1689en_US
dc.identifier.issn1676-5680
dc.identifier.issue3en_US
dc.identifier.pmid20799165
dc.identifier.scopus2-s2.0-79952067174
dc.identifier.scopusqualityQ4
dc.identifier.startpage1683en_US
dc.identifier.urihttps://doi.org/10.4238/vol9-3gmr947
dc.identifier.urihttps://hdl.handle.net/11468/19635
dc.identifier.volume9en_US
dc.identifier.wosWOS:000282756600026
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherFunpec-Editoraen_US
dc.relation.ispartofGenetics and Molecular Research
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectSmall Supernumerary Marker Chromosomesen_US
dc.subjectKaryotypeen_US
dc.subjectSpontaneous Abortionen_US
dc.subjectMarker Chromosomeen_US
dc.titleA small supernumerary marker chromosome, derived from chromosome 22, possibly associated with repeated spontaneous abortionsen_US
dc.titleA small supernumerary marker chromosome, derived from chromosome 22, possibly associated with repeated spontaneous abortions
dc.typeArticleen_US

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