Gene expression patterns in relation to the clinical phenotype in Klinefelter syndrome.

Context: Klinefelter syndrome (KS) is the most common chromosome disorder in men (47,XXY), exhibiting a phenotype with marked variation and increased morbidity. The pathophysiological link between the supernumerary X chromosome and the clinical phenotype remains unknown.

Objective: To elucidate whether differential gene expression patterns can be detected in KS patients and whether these are related to inherent clinical features.