title: Two 48,XXYY patients: clinical, cytogenetic and molecular aspects.
abstract: Two 48,XXYY males, a young and an adult patient, have been clinically and molecularly analysed. Clinical findings seem less severe in the young patient. This clinical difference could be mainly due to the age of the younger patient or, alternatively, the different pattern of X-inactivation observed in the two patients could play a role in the degree of the clinical manifestations.
authors.affiliation: Medical Genetics Service, IRCCS-CSS Hospital, 71013 San Giovanni Rotondo (Fg), Italy. zelante@operapadrepio.it
authors.forename: L
authors.initials: L
authors.lastname: Zelante
authors.forename: M R
authors.initials: MR
authors.lastname: Piemontese
authors.forename: G
authors.initials: G
authors.lastname: Francioli
authors.forename: S
authors.initials: S
authors.lastname: Calvano
mesh_terms: D000328:Adult; D000367:Age Factors; D000374:Aggression; D000782:Aneuploidy; D002648:Child; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007805:Language Development Disorders / Q000235:genetics; D008297:Male; D010554:Personality Disorders / Q000235:genetics