A Girl With Metopic Synostosis and Trisomy 13 Mosaicism: Case Report and Review of the Literature

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dc.contributor.authorAypar, Ebru
dc.contributor.authorYildirim, M. Selman
dc.contributor.authorSert, Ahmet
dc.contributor.authorCiftci, Ilhan
dc.contributor.authorOdabas, Dursun
dc.date.accessioned2020-03-26T18:08:14Z
dc.date.available2020-03-26T18:08:14Z
dc.date.issued2011
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractTrisomy 13, or Patau syndrome is a rare chromosomal disorder characterized by a triad of cleft lip and palate, postaxial polydactyly and microcephaly. Complete, partial, or mosaic forms of the disorder can occur. Mosaic trisomy 13 is very rare, it occurs in only 5% of all patients with trisomy 13 phenotype. Metopic synostosis (MS) is premature fusion of the metopic suture, which is part of the frontal suture. It results in a V-shaped abnormality at the front of the skull. MS may occur in a syndromic or nonsyndromic form. We report on a 24-day-old girl with hypotonia, MS, trigonocephaly, capillary hemangioma, hypotelorism, upward slanting palpebral fissures, epicanthal folds, small nose with anteverted nares, high palate, ankyloglossia, long philtrum, low-set ears, short neck, postaxial polydactyly of both hands and feet and congenital heart defect. Cytogenetic analysis demonstrated trisomy 13 mosaicism; 46, XX[58]/47,XX,+13[42]. Although MS has been previously reported in complete and partial forms of trisomy 13, it has not been reported in mosaic form of trisomy 13. Our report supports the evidence that trisomy 13 causes MS. It also emphasizes the need for cytogenetic investigations in patients presenting with MS and multiple congenital anomalies for providing accurate diagnosis, genetic counseling, and prenatal diagnosis. (C) 2011 Wiley-Liss, Inc.en_US
dc.identifier.doi10.1002/ajmg.a.33839en_US
dc.identifier.endpage641en_US
dc.identifier.issn1552-4825en_US
dc.identifier.issue3en_US
dc.identifier.pmid21344634en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage638en_US
dc.identifier.urihttps://dx.doi.org/10.1002/ajmg.a.33839
dc.identifier.urihttps://hdl.handle.net/20.500.12395/26054
dc.identifier.volume155Aen_US
dc.identifier.wosWOS:000288033300031en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWILEY-BLACKWELLen_US
dc.relation.ispartofAMERICAN JOURNAL OF MEDICAL GENETICS PART Aen_US
dc.relation.publicationcategoryDiğeren_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.selcuk20240510_oaigen_US
dc.subjecttrisomy 13en_US
dc.subjectmosaic trisomy 13en_US
dc.subjectmetopic synostosisen_US
dc.subjecttrigonocephalyen_US
dc.titleA Girl With Metopic Synostosis and Trisomy 13 Mosaicism: Case Report and Review of the Literatureen_US
dc.typeReviewen_US

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