Coexistence of inverted Y, chromosome 15p+ and abnormal phenotype

Basit Öğe Kaydı
dc.contributor.authorAcar, Hasan
dc.contributor.authorÇora, Tülin
dc.contributor.authorErkul, I
dc.date.accessioned2020-03-26T16:27:04Z
dc.date.available2020-03-26T16:27:04Z
dc.date.issued1999
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractCoexistence of inverted I; chromosome 15p+ and abnormal phenotype: In this study: we report conventional and molecular cytogenetic studies in a patient with multiple anomalies who is a carrier of a pericentric inversion on chromosome Y and a chromosome 15p+. His parents were phenotSpically normal. The father is a carrier of a pericentric inversion of chromosome I; and the mother carries a large chromosome 15p+ variant. The inverted Y chromosome was demonstrated bg GTG- and CBG-banding, and DAPI-staining. The presence of extra chromosomal material on the chromosome 15p, that was C-band and DAPI positive, was demonstrated by trypsin G-banding. This suggests that the extra chromosomal material contained repetitive DNA sequences. NOR-staining indicated the presence a nuclear organizer region at the junction of the chromosome 15p+ material. Fluorescence in situ hybridization (FISH), with chromosome X and Y painting probes, alpha- and classic-satellite probes specific for chromosome I: alpha- and beta-satellite III probes for chromosome 15 were used to elucidate the nature of both the inverted Y chromosome and chromosome 15pt. The result with chromosome X and Y painting probes, alpha-satellite, classic-satellite, and DYS59 probes specific for chromosome Y revealed the rearrangement of the Y chromosome was an inv(Y)(p11.2q11.22 or q11.23). FISH with alpha-satellite and beta-satellite III probes for chromosome 15 demonstrated that the extra chromosomal material on the chromosome 15 probably represents beta-satellite III sequences. The possible roles of the simultaneous occurrence of an inverted Y and the amplified DNA sequence on chromosome 15p in the abnormal phenotype of the proband are discussed.en_US
dc.identifier.endpage170en_US
dc.identifier.issn1015-8146en_US
dc.identifier.issue2en_US
dc.identifier.pmid10422010en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage163en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12395/16937
dc.identifier.volume10en_US
dc.identifier.wosWOS:000081335100008en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherMEDECINE ET HYGIENEen_US
dc.relation.ispartofGENETIC COUNSELINGen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.selcuk20240510_oaigen_US
dc.subjectpericentric inversion of Y chromosome chromosome 15p+en_US
dc.subjectabnormal phenotypeen_US
dc.subjectFISHen_US
dc.titleCoexistence of inverted Y, chromosome 15p+ and abnormal phenotypeen_US
dc.typeArticleen_US

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayın Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu