title: Dystrophinopathy in a young boy with Klinefelter's syndrome.
abstract: We report the first case of a child with mild dystrophinopathy associated with Klinefelter's syndrome (karyotype 47, XXY). This 3.5-year-old boy was affected by some symptoms suggestive of Becker's muscular dystrophy. Dystrophin immunostaining and immunoblotting procedures confirmed the diagnosis, but polymerase chain reaction-directed gene analysis failed to reveal any macrodeletion. Methylation-based assay did not show preferential X-inactivation. This confirmed the coexistence of the two active X-chromosomes (one of which was of paternal origin), thus accounting for the mild form of dystrophinopathy in this child affected by Klinefelter's syndrome.
authors.affiliation: Dipartimento di Clinica Neurofisiologica, Università Federico II, Naples, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Santoro
authors.forename: L
authors.initials: L
authors.lastname: Pastore
authors.forename: P G
authors.initials: PG
authors.lastname: Rippa
authors.forename: A V
authors.initials: AV
authors.lastname: Orsini
authors.forename: E
authors.initials: E
authors.lastname: Del Giudice
authors.forename: G
authors.initials: G
authors.lastname: Vita
authors.forename: G
authors.initials: G
authors.lastname: Frisso
authors.forename: F
authors.initials: F
authors.lastname: Salvatore
mesh_terms: D015153:Blotting, Western; D002675:Child, Preschool; D004303:Dosage Compensation, Genetic; D016189:Dystrophin / Q000378:metabolism; D006801:Humans; D007150:Immunohistochemistry; D007713:Klinefelter Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D008297:Male; D009136:Muscular Dystrophies / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D016133:Polymerase Chain Reaction
chemical_list: D016189:Dystrophin