Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies

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dc.contributor.authorBalci, Sevim
dc.contributor.authorEngiz, Özlem
dc.contributor.authorAktaş, Dilek
dc.contributor.authorVargel, İbrahim
dc.contributor.authorBeksac, M.S.
dc.contributor.authorMrasek, Kristin
dc.contributor.authorLiehr, T
dc.date.accessioned2020-06-25T17:41:01Z
dc.date.available2020-06-25T17:41:01Z
dc.date.issued2006
dc.departmentKırıkkale Üniversitesi
dc.descriptionConference on European Human Genetics -- MAY 07, 2005 -- Prague, CZECH REPUBLIC
dc.descriptionBeksac, Meral/0000-0003-1797-8657; Liehr, Thomas/0000-0003-1672-3054; Beksac, M.Sinan/0000-0001-6362-787X
dc.description.abstractWe report on a 16-month-old male patient with ring chromosome 4 and deletion of Wolf-Hirschhorn syndrome (WHS) region with multiple congenital anomalies including unilateral cleft lip and palate, iris coloboma, microcephaly, midgut malrotation, hypospadias, and double urethral orifices. Peripheral chromosome analysis of the patient showed 46,XY,r(4)(p16.3q35) de novo. Multicolor fluorescence in situ hybridization (FISH) study was also performed and according to multicolor banding (MCB) a r(4)(en_US
dc.identifier.citationclosedAccessen_US
dc.identifier.doi10.1002/ajmg.a.31131
dc.identifier.endpage632en_US
dc.identifier.issn1552-4825
dc.identifier.issue6en_US
dc.identifier.pmid16470698
dc.identifier.scopus2-s2.0-33644864589
dc.identifier.scopusqualityQ3
dc.identifier.startpage628en_US
dc.identifier.urihttps://doi.org/10.1002/ajmg.a.31131
dc.identifier.urihttps://hdl.handle.net/20.500.12587/3606
dc.identifier.volume140Aen_US
dc.identifier.wosWOS:000235816500013
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherWiley-Lissen_US
dc.relation.ispartofAmerican Journal Of Medical Genetics Part A
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectring chromosome 4en_US
dc.subjectWolf-Hirschhorn syndrome (WHS)en_US
dc.subjectr(4)(en_US
dc.subjectiris colobomaen_US
dc.subjectcleft lip and palateen_US
dc.subjecthypospadias and double urethral orificesen_US
dc.subjectmidgut malrotationen_US
dc.subjectcorpus callosum hypoplasiaen_US
dc.subjectmulticolor banding (MCB)en_US
dc.subjectCGH analysis of chromosome 4en_US
dc.titleRing chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomaliesen_US
dc.typeArticle

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