A MOLECULARLY CHARACTERIZED INTERSTITIAL DELETION ENCOPASSING THE 11q14.1-q23.3 REGION IN A CASE WITH MULTIPLE CONGENITAL ABNORMALITIES

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dc.contributor.author Çetin, Zafer
dc.contributor.author Clark, Ozden Altiok
dc.contributor.author Yakut, Sezin
dc.contributor.author Guzel, Nur Banu
dc.contributor.author Mihci, Ercan
dc.contributor.author Karauzum, Sibel Berker
dc.date.accessioned 2021-06-24T11:50:40Z
dc.date.available 2021-06-24T11:50:40Z
dc.date.issued 2016
dc.identifier.issn 1015-8146
dc.identifier.uri http://openaccess.sanko.edu.tr/xmlui/handle/20.500.12527/265
dc.description.abstract A molecularly characterized interstitial deletion encompassing the 11q14.1-q23.3 region in a case with multiple congenital abnormalities: Interstitial deletion of chromosome 11 long arm is a rare event. In most of the interstitial deletions on the long arm of chromosome 11 both the position and the size of these deletions are heterogeneous making a precise karyotype-phenotype correlation. In only a few of the reported cases has the deletion been molecularly characterized. Our patient was a 13-year-old male presented; mental motor retardation, strabismus, myopia, retinopathy, sensorineural hearing loss, a long and triangular face, a broad forehead, hypotelorism, nasal septal deviation, a beaked nose, hypoplastic ala nasie, bilateral low-set ears, a high arched palate, crowded teeth, retrognathia, thin lips, a long neck, and sloping shoulders, hyperactive behavior, pulmonary stenosis and lumbar scoliosis. Conventional cytogenetic analysis revealed 46,XY,del(11)(q14.1-q23.3) karyotype in the patient. Array-CGH analysis of the patient's DNA revealed an interstitial deletion encompassing 33.2 Mb in the 11q14.1-q23.3 genomic region (chrl1: 83,161,443-116,401,751; Hg19). In this report, we present a patient with an interstitial deletion on the long arm of chromosome 11 that encompassed the 11q14.1-q23.3 region; and, using array-CGH analysis, we molecularly characterized the deleted region. en_US
dc.language.iso English en_US
dc.rights info:eu-repo/semantics/closedAccess en_US
dc.subject 11q14.1-q23.3 deletion en_US
dc.subject Chromosome 11 en_US
dc.subject Interstitial deletion en_US
dc.subject Multiple congenital abnormality en_US
dc.title A MOLECULARLY CHARACTERIZED INTERSTITIAL DELETION ENCOPASSING THE 11q14.1-q23.3 REGION IN A CASE WITH MULTIPLE CONGENITAL ABNORMALITIES en_US
dc.type Article en_US
dc.relation.journal GENETIC COUNSELING en_US
dc.identifier.issue 1 en_US
dc.identifier.startpage 51 en_US
dc.identifier.endpage 66 en_US
dc.identifier.volume 27 en_US
dc.contributor.authorID 0000-0003-0125-235X : Zafer Çetin en_US
dc.identifier.wos 000385210500006 en_US
dc.contributor.sankoauthor Zafer Çetin en_US


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Gazimuhtar Paşa Bulvarı
No:36
27090
Şehitkamil / GAZİANTEP