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LeX chromosome imprinting in turner syndrome
dc.creator | Damnjanović, Tatjana | |
dc.creator | Novaković, Ivana | |
dc.creator | Milašin, Jelena | |
dc.creator | Bunjevački, Vera | |
dc.creator | Jekić, Biljana | |
dc.creator | Cvijeticanin, Suzana | |
dc.creator | Luković, Ljiljana | |
dc.date.accessioned | 2020-07-02T12:15:54Z | |
dc.date.available | 2020-07-02T12:15:54Z | |
dc.date.issued | 2007 | |
dc.identifier.issn | 0254-5934 | |
dc.identifier.uri | https://smile.stomf.bg.ac.rs/handle/123456789/1365 | |
dc.description.abstract | The objective of this study was to assess indirectly the existence of X imprinting and its potential role in a number of clinical characteristics of Turner syndrome patients. Highly polymorphic X linked microsatellite markers were used to determine the origin of the single X chromosome in 13 patients with Turner syndrome. Ten (77%) patients retained the maternal X chromosome (X-m), while only three patients (23%) retained the paternal X chromosome (X-p). Fisher exact statistical test was used for the association of X chromosome origin with the clinical phenotype. No significant difference was found between the two groups of patients regarding the following phenotype characteristics: lymphoedema. at birth, short neck, low posterior hairline, eye anomalies (ptosis, epicanthal folds, hypertelorism, strabismus), multiple pigmented naevi, cardiac and renal anomalies. Absence association between the X chromosome origin and Turner phenotype was confirmed by a meta-analysis combining five studies, including this one. It was only neck webbing that showed a trend of association with X-m. | en |
dc.rights | restrictedAccess | |
dc.source | Korean Journal of Genetics | |
dc.subject | turner syndrome | en |
dc.subject | X chromosome | en |
dc.subject | imprinting | en |
dc.subject | chromosome origin | en |
dc.subject | phenotype | en |
dc.subject | PCR | en |
dc.title | LeX chromosome imprinting in turner syndrome | en |
dc.type | article | |
dc.rights.license | ARR | |
dcterms.abstract | Новаковић, Ивана; Милашин, Јелена; Јекић, Биљана; Буњевачки, Вера; Луковић, Љиљана; Цвијетицанин, Сузана; Дамњановић, Татјана; | |
dc.citation.volume | 29 | |
dc.citation.issue | 3 | |
dc.citation.spage | 291 | |
dc.citation.epage | 295 | |
dc.citation.other | 29(3): 291-295 | |
dc.citation.rank | M23 | |
dc.identifier.wos | 000250300900003 | |
dc.identifier.scopus | 2-s2.0-35448938456 | |
dc.identifier.rcub | https://hdl.handle.net/21.15107/rcub_smile_1365 | |
dc.type.version | publishedVersion |
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