LeX chromosome imprinting in turner syndrome
Nema prikaza
Autori
Damnjanović, TatjanaNovaković, Ivana
Milašin, Jelena
Bunjevački, Vera
Jekić, Biljana
Cvijeticanin, Suzana
Luković, Ljiljana
Članak u časopisu (Objavljena verzija)
Metapodaci
Prikaz svih podataka o dokumentuApstrakt
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 stud...ies, including this one. It was only neck webbing that showed a trend of association with X-m.
Ključne reči:
turner syndrome / X chromosome / imprinting / chromosome origin / phenotype / PCRIzvor:
Korean Journal of Genetics, 2007, 29, 3, 291-295Kolekcije
Institucija/grupa
Stomatološki fakultetTY - JOUR AU - Damnjanović, Tatjana AU - Novaković, Ivana AU - Milašin, Jelena AU - Bunjevački, Vera AU - Jekić, Biljana AU - Cvijeticanin, Suzana AU - Luković, Ljiljana PY - 2007 UR - https://smile.stomf.bg.ac.rs/handle/123456789/1365 AB - 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. T2 - Korean Journal of Genetics T1 - LeX chromosome imprinting in turner syndrome VL - 29 IS - 3 SP - 291 EP - 295 UR - https://hdl.handle.net/21.15107/rcub_smile_1365 ER -
@article{ author = "Damnjanović, Tatjana and Novaković, Ivana and Milašin, Jelena and Bunjevački, Vera and Jekić, Biljana and Cvijeticanin, Suzana and Luković, Ljiljana", year = "2007", 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.", journal = "Korean Journal of Genetics", title = "LeX chromosome imprinting in turner syndrome", volume = "29", number = "3", pages = "291-295", url = "https://hdl.handle.net/21.15107/rcub_smile_1365" }
Damnjanović, T., Novaković, I., Milašin, J., Bunjevački, V., Jekić, B., Cvijeticanin, S.,& Luković, L.. (2007). LeX chromosome imprinting in turner syndrome. in Korean Journal of Genetics, 29(3), 291-295. https://hdl.handle.net/21.15107/rcub_smile_1365
Damnjanović T, Novaković I, Milašin J, Bunjevački V, Jekić B, Cvijeticanin S, Luković L. LeX chromosome imprinting in turner syndrome. in Korean Journal of Genetics. 2007;29(3):291-295. https://hdl.handle.net/21.15107/rcub_smile_1365 .
Damnjanović, Tatjana, Novaković, Ivana, Milašin, Jelena, Bunjevački, Vera, Jekić, Biljana, Cvijeticanin, Suzana, Luković, Ljiljana, "LeX chromosome imprinting in turner syndrome" in Korean Journal of Genetics, 29, no. 3 (2007):291-295, https://hdl.handle.net/21.15107/rcub_smile_1365 .