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.authorscopusid55386208500
dc.authorscopusid55615577100
dc.authorscopusid56125654900
dc.authorscopusid8941466400
dc.authorscopusid56553790900
dc.authorscopusid6601986277
dc.contributor.authorAlp, M. Y.
dc.contributor.authorÇebi, 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 ofliqil. l-qi4 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, hrain malformations (holoprosencephaly, Dandy-Walker malformation), distal limb defects, eye anomalies, genitourinary and gastrointestinal tract malformations (Hirschsprung's disease). Approximately 1.2 Mb region in 3q32 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 I3q31.1-q34 associated with short stature, microcephaly, facial dysmorphism, clinodactyly, cryptorchidism, micropenis, epilepsy, HI'H, DWM, and HSCR. According to the literature review, present case indicated that smallest deleted region associated with DWM HPE might be located at the 13q32.3, limb defects 13q34, anogenital malformations 13q33.3-34, and HSCR 13q3l.1-32.1.
dc.identifier.endpage49
dc.identifier.issn1015-8146
dc.identifier.issue1en_US
dc.identifier.pmid27192891
dc.identifier.scopus2-s2.0-84973455076
dc.identifier.scopusqualityN/A
dc.identifier.startpage43
dc.identifier.urihttps://hdl.handle.net/20.500.11776/9232
dc.identifier.volume27
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorAydın, Hatip
dc.language.isoen
dc.publisherEditions Medecine 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.subjectgenomic DNA
dc.subjectApgar score
dc.subjectArticle
dc.subjectcase report
dc.subjectchromosome 13q
dc.subjectchromosome analysis
dc.subjectchromosome deletion 13
dc.subjectclinical article
dc.subjectclinodactyly
dc.subjectcryptorchism
dc.subjectcyanosis
dc.subjectDandy Walker syndrome
dc.subjectDNA isolation
dc.subjectear dysplasia
dc.subjectepilepsy
dc.subjectface dysmorphia
dc.subjectgenetic association
dc.subjectgenotype phenotype correlation
dc.subjectgrowth retardation
dc.subjectHirschsprung disease
dc.subjecthistology
dc.subjectholoprosencephaly
dc.subjecthuman
dc.subjecthuman tissue
dc.subjecthypernatremia
dc.subjectinfant
dc.subjectintestine obstruction
dc.subjectlimb defect
dc.subjectlow set ear
dc.subjectmale
dc.subjectMeckel diverticulum
dc.subjectmegacolon
dc.subjectmental deficiency
dc.subjectmicrocephaly
dc.subjectmicrognathia
dc.subjectmicropenis
dc.subjectphysical examination
dc.subjectseizure
dc.subjectshort stature
dc.subjectchromosome 13
dc.subjectchromosome deletion
dc.subjectchromosome disorder
dc.subjectDandy Walker syndrome
dc.subjectgenetics
dc.subjectHirschsprung disease
dc.subjectholoprosencephaly
dc.subjectmultiple malformation syndrome
dc.subjectAbnormalities, Multiple
dc.subjectChromosome Deletion
dc.subjectChromosome Disorders
dc.subjectChromosomes, Human, Pair 13
dc.subjectDandy-Walker Syndrome
dc.subjectHirschsprung Disease
dc.subjectHoloprosencephaly
dc.subjectHumans
dc.subjectInfant
dc.subjectMale
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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