Novel findings, mini-review and dysmorphological characterization of 16p13.11 microduplication syndrome

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dc.contributor.authorArslan, Ahmet Burak
dc.contributor.authorZamani, Ayse Gul
dc.contributor.authorYildirim, Mahmut Selman
dc.date.accessioned2024-02-23T13:03:27Z
dc.date.available2024-02-23T13:03:27Z
dc.date.issued2022
dc.departmentNEÜen_US
dc.description.abstractThe short arm of chromosome 16 and especially the region 16p13.11 is a chromosome region where many structural variants, especially deletions and duplications, can be observed. Although deletions of this region are clinically well defined, duplications are rare, and so far, there is no established clinical consensus in regard with its clinical picture, and especially the dysmorphic perspective of the disease is far from being clear. A 5-year-and-2-month-old patient who presented with epilepsy, autism and late speech onset complaints was evaluated in our genetics department. On physical examination, unilateral preauricular skin tag and upslanting palpebral fissures were noted. Microarray analysis was performed and reported as ([hg19]: 16p13.11 (14.897.804-16.730.375) x3). The literature review revealed only a few reports about the syndrome, but some dysmorphological findings appear to recur in different reports, which enables a possible characterization. Dysmorphic findings were discussed.en_US
dc.description.sponsorshipWellcomeen_US
dc.description.sponsorshipThis study makes use of data generated by the DECIPHER community. A full list of centres who contributed to the generation of the data is available from and via email from [email protected]. Funding for the DECIPHER project was provided by Wellcome.en_US
dc.identifier.doi10.1002/jdn.10188
dc.identifier.endpage294en_US
dc.identifier.issn0736-5748
dc.identifier.issn1873-474X
dc.identifier.issue4en_US
dc.identifier.pmid35470466en_US
dc.identifier.scopus2-s2.0-85130493769en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage289en_US
dc.identifier.urihttps://doi.org/10.1002/jdn.10188
dc.identifier.urihttps://hdl.handle.net/20.500.12452/10621
dc.identifier.volume82en_US
dc.identifier.wosWOS:000799110300001en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofInternational Journal Of Developmental Neuroscienceen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subject16p13en_US
dc.subject11 Microduplicationen_US
dc.subjectDysmorphologyen_US
dc.subjectUpslanting Palpebral Fissuresen_US
dc.subjectPreauricular Skin Tagen_US
dc.titleNovel findings, mini-review and dysmorphological characterization of 16p13.11 microduplication syndromeen_US
dc.typeReview Articleen_US

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