title: The 47,XXY karyotype and unrelated malformative patterns: an unusual association.
abstract: 47,XXY chromosome complement is relatively frequent (1/750-1000 male newborns) but has so far not been reported in association with malformative syndromes. Three cases of 47,XXY karyotype associated with an unrelated malformative pattern, the Silver-Russell syndrome in two cases and Noonan syndrome in one case are reported. The possibility of a phenotypic alteration of patients with the XXY karyotype by these malformative syndromes is considered.
authors.affiliation: Clinica Pediatrica dell'Università, IRCCS Policlinico S. Matteo, Italia.
authors.forename: M
authors.initials: M
authors.lastname: Aricò
authors.forename: A
authors.initials: A
authors.lastname: Colombo
authors.forename: E
authors.initials: E
authors.lastname: Maserati
authors.forename: F
authors.initials: F
authors.lastname: Pasquali
authors.forename: G R
authors.initials: GR
authors.lastname: Burgio
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002648:Child; D002657:Child Development; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D009634:Noonan Syndrome / Q000235:genetics; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome