Article
Is there an influence of X-chromosomal imprinting on the phenotype in Klinefelter syndrome? A clinical and molecular genetic study of 61 cases.
Clinical genetics - 1 Jul 2006
Stemkens D, Roza T, Verrij L, Swaab H, van Werkhoven M K, Alizadeh B Z, Sinke R J, Giltay J C
Abstract excerpt
Studies on Turner syndrome suggested the presence of X-chromosomal-imprinted genes involved in social and verbal cognition. Imprinted genes on autosomes were shown to affect growth. Could imprinting of such genes on the X chromosome also influence psychomotor development and growth in men with Klinefelter syndrome (KS), who have a supernumerary X? We recorded anthropometric and psychomotor development parameters...
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