Recurrent Proximal 18p Monosomy and 18q Trisomy in a Family due to a Pericentric Inversion

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dc.contributor.authorZamani, Ayse Gul
dc.contributor.authorAcar, Aynur
dc.contributor.authorDurakbasi-Dursun, Gul
dc.contributor.authorYildirim, M. Selman
dc.contributor.authorCeylaner, Serdar
dc.contributor.authorTuncez, Ebru
dc.date.accessioned2024-02-22T20:49:59Z
dc.date.available2024-02-22T20:49:59Z
dc.date.issued2014
dc.departmentNEÜen_US
dc.description.abstractHere, we report on a family with pericentric inversion of chromosome 18 [inv(18)(p11.2q21)] and two recombinants with a duplication of q21qter and a deletion of p11.2pter regions in a four-generation family. This chromosomal abnormality was inherited in our first patient from the father, while it was transmitted to the second patient from the mother. Array-CGH analysis were used to better characterize duplicated and deleted chromosomal regions and showed no genomic copy number variation (CNV) differences between these two relatives. We discussed genotype-phenotype correlations including previously reported. (c) 2014 Wiley Periodicals, Inc.en_US
dc.identifier.doi10.1002/ajmg.a.36410
dc.identifier.endpage1244en_US
dc.identifier.issn1552-4825
dc.identifier.issn1552-4833
dc.identifier.issue5en_US
dc.identifier.pmid24478222en_US
dc.identifier.scopus2-s2.0-84898912512en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage1239en_US
dc.identifier.urihttps://doi.org/10.1002/ajmg.a.36410
dc.identifier.urihttps://hdl.handle.net/20.500.12452/10516
dc.identifier.volume164en_US
dc.identifier.wosWOS:000334290300025en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofAmerican Journal Of Medical Genetics Part Aen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectChromosomal Abnormalitiesen_US
dc.subjectChromosome 18en_US
dc.subjectPericentric Inversionen_US
dc.subjectParental Originen_US
dc.titleRecurrent Proximal 18p Monosomy and 18q Trisomy in a Family due to a Pericentric Inversionen_US
dc.typeArticleen_US

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