22.5 MB DELETION OF 13q31.1-q34 ASSOCIATED WITH HPE, DWM, AND HSCR: A CASE REPORT AND REDEFINING THE SMALLEST DELETED REGIONS

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dc.authorid0000-0002-7785-2995
dc.authorwosidAYDIN, Hatip/A-2711-2017
dc.authorwosidaydin, hatip/AAE-5540-2021
dc.contributor.authorAlp, M. Y.
dc.contributor.authorCebi, A. H.
dc.contributor.authorSeyhan, S.
dc.contributor.authorCansu, A.
dc.contributor.authorAydın, Hacı Veli
dc.contributor.authorİkbal, M.
dc.date.accessioned2022-05-11T14:42:07Z
dc.date.available2022-05-11T14:42:07Z
dc.date.issued2016
dc.departmentFakülteler, Tıp Fakültesi, Temel Tıp Bilimleri Bölümü, Tıbbi Biyoloji Ana Bilim Dalı
dc.description.abstract22.5 MB deletion of 13q31.1-q34 associated with HPE, DWM, and HSCR: A case report and redefining the smallest deleted regions: Partial deletion of the long arm of the chromosome 13, 13q deletion syndrome is a rare chromosomal disorder characterized by severe growth and mental retardation, microcephaly, facial dysmorphism, brain malformations (holoprosencephaly, Dandy-Walker malformation), distal limb defects, eye anomalies, genitourinary and gastrointestinal tract malformations (Hirschsprung's disease). Approximately 1.2 Mb region in 13q32 was suggested as minimal critical region which is responsible for severe mental and growth retardation and brain anomalies. Here we described a male patient with de novo interstitial deletion of 13q31.1-q34 associated with short stature, microcephaly, facial dysmorphism, clinodactyly, cryptorchidism, micropenis, epilepsy, HPE, DWM, and HSCR. According to the literature review, present case indicated that smallest deleted region associated with DWM and HPE might be located at the 13q32.3, limb defects 13q34, anogenital malformations 13q33.3-34, and HSCR 13q31.1-32.1.
dc.description.sponsorshipTUBITAKTurkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK) [112s658]
dc.description.sponsorshipWe are thankful for the support of TUBITAK as the 112s658 numbered project.
dc.identifier.endpage49
dc.identifier.issn1015-8146
dc.identifier.issue1en_US
dc.identifier.pmid27192891
dc.identifier.startpage43
dc.identifier.urihttps://hdl.handle.net/20.500.11776/9231
dc.identifier.volume27
dc.identifier.wosWOS:000385210500005
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakPubMed
dc.institutionauthorAydın, Hatip
dc.language.isoen
dc.publisherMedecine Et Hygiene
dc.relation.ispartofGenetic Counseling
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subject13q deletion syndrome
dc.subjectDandy-Walker malformation
dc.subjectHirschsprung's disease
dc.subjectHoloprosencephaly
dc.subjectInterstitial Deletion
dc.subjectHirschsprungs-Disease
dc.subject13q Deletions
dc.subjectRetinoblastoma
dc.subjectChromosome-13
dc.subjectDefinition
dc.subjectGene
dc.title22.5 MB DELETION OF 13q31.1-q34 ASSOCIATED WITH HPE, DWM, AND HSCR: A CASE REPORT AND REDEFINING THE SMALLEST DELETED REGIONS
dc.typeArticle

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