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KMID : 0381120070290030291
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Genes and Genomics
2007 Volume.29 No. 3 p.291 ~ p.295
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Chromosome Imprinting in Turner Syndrome
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Tatjana Damnjanovic
Ivana Novakovic
Jelena Milasin
Vera Bunjevacki
Biljana Jekic
Suzana Cvijeticanin
Ljiljana Lukovic
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Abstract
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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 (Xm), while only three patients (23%) retained the paternal X chromosome (Xp). 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 of 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 Xm.
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KEYWORD
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Turner syndrome, X chromosome, imprinting, chromosome origin, phenotype, PCR
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