Please use this identifier to cite or link to this item: https://hdl.handle.net/11499/6577
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dc.contributor.authorSemerci, C.Nur-
dc.contributor.authorCinbiş, Mine-
dc.contributor.authorUllmann, R.-
dc.contributor.authorSteininger, A.-
dc.contributor.authorBahce, M.-
dc.contributor.authorYağcı, Baki-
dc.contributor.authorÖzden, Serap-
dc.date.accessioned2019-08-16T12:08:45Z-
dc.date.available2019-08-16T12:08:45Z-
dc.date.issued2010-
dc.identifier.issn1552-4825-
dc.identifier.urihttps://hdl.handle.net/11499/6577-
dc.identifier.urihttps://doi.org/10.1002/ajmg.a.33383-
dc.description.abstractWe report on a patient with partial monosomy 6p and partial trisomy 12q identified by fluorescent in situ hybridization (FISH) and array-based comparative genomic hybridization (aCGH). She had a complex phenotype characterized by mental retardation (MR), psychomotor developmental delay, speech disorder, hypertelorism, eye anomalies, hearing loss, low-set malformed ears, thin upper lip, heart defect, clinodactyly, pes valgus, and skeletal anomalies. There is phenotypic overlap between our case and Mutchinick syndrome. This is the first report of a combined partial monosomy 6p and partial trisomy 12q due to an unbalanced translocation between subtelomeric regions of these chromosomes. © 2010 Wiley-Liss, Inc.en_US
dc.language.isoenen_US
dc.publisherWiley-Liss Inc.en_US
dc.relation.ispartofAmerican Journal of Medical Genetics, Part Aen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectaCGHen_US
dc.subjectFISHen_US
dc.subjectPartial trisomy 12qen_US
dc.subjectSubtelomeric 6p deletionen_US
dc.subjecttranscription factor FOXC1en_US
dc.subjectarticleen_US
dc.subjectcase reporten_US
dc.subjectchilden_US
dc.subjectchromosome 12qen_US
dc.subjectchromosome 6pen_US
dc.subjectclinodactylyen_US
dc.subjectcomparative genomic hybridizationen_US
dc.subjectcongenital heart malformationen_US
dc.subjectear malformationen_US
dc.subjecteye malformationen_US
dc.subjectfemaleen_US
dc.subjectfluorescence in situ hybridizationen_US
dc.subjectfoot malformationen_US
dc.subjectfoxf2 geneen_US
dc.subjectgeneen_US
dc.subjectgene deletionen_US
dc.subjectgenetic disorderen_US
dc.subjecthearing lossen_US
dc.subjecthumanen_US
dc.subjecthypertelorismen_US
dc.subjectkaryotype 46,XXen_US
dc.subjectlip malformationen_US
dc.subjectlow set earen_US
dc.subjectlower lipen_US
dc.subjectmental deficiencyen_US
dc.subjectmotor retardationen_US
dc.subjectMutchinick syndromeen_US
dc.subjectpartial monosomyen_US
dc.subjectpes valgusen_US
dc.subjectphenotypeen_US
dc.subjectpreschool childen_US
dc.subjectpriority journalen_US
dc.subjectpsychomotor developmental delayen_US
dc.subjectskeleton malformationen_US
dc.subjectspeech disorderen_US
dc.subjecttelomereen_US
dc.subjecttrisomy 12en_US
dc.subjectadulten_US
dc.subjectchromosome 12en_US
dc.subjectchromosome 6en_US
dc.subjectgene translocationen_US
dc.subjectgeneticsen_US
dc.subjectkaryotypingen_US
dc.subjectmaleen_US
dc.subjectmonosomyen_US
dc.subjectnewbornen_US
dc.subjectpregnancyen_US
dc.subjectsyndromeen_US
dc.subjecttrisomyen_US
dc.subjectX chromosomeen_US
dc.subjectyoung adulten_US
dc.subjectValgusen_US
dc.subjectAdulten_US
dc.subjectChilden_US
dc.subjectChild, Preschoolen_US
dc.subjectChromosomes, Human, Pair 12en_US
dc.subjectChromosomes, Human, Pair 6en_US
dc.subjectChromosomes, Human, Xen_US
dc.subjectComparative Genomic Hybridizationen_US
dc.subjectFemaleen_US
dc.subjectHumansen_US
dc.subjectIn Situ Hybridization, Fluorescenceen_US
dc.subjectInfant, Newbornen_US
dc.subjectKaryotypingen_US
dc.subjectMaleen_US
dc.subjectMonosomyen_US
dc.subjectPhenotypeen_US
dc.subjectPregnancyen_US
dc.subjectSyndromeen_US
dc.subjectTelomereen_US
dc.subjectTranslocation, Geneticen_US
dc.subjectTrisomyen_US
dc.subjectYoung Adulten_US
dc.titleSubtelomeric 6p monosomy and 12q trisomy in a patient with a 46,XX,der(6)t(6;12)(p25.3;q24.31) karyotype: Phenotypic overlap with Mutchinick syndromeen_US
dc.typeArticleen_US
dc.identifier.volume152en_US
dc.identifier.issue7en_US
dc.identifier.startpage1724-
dc.identifier.startpage1724en_US
dc.identifier.endpage1729en_US
dc.identifier.doi10.1002/ajmg.a.33383-
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.identifier.pmid20578131en_US
dc.identifier.scopus2-s2.0-77954118855en_US
dc.identifier.wosWOS:000280115000045en_US
dc.identifier.scopusqualityQ2-
dc.ownerPamukkale University-
item.fulltextNo Fulltext-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
item.languageiso639-1en-
item.grantfulltextnone-
item.openairetypeArticle-
crisitem.author.dept14.02. Internal Medicine-
Appears in Collections:PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
Tıp Fakültesi Koleksiyonu
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection
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