LeX chromosome imprinting in turner syndrome

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.