The 47,XXY karyotype and unrelated malformative patterns: an unusual association
Aricò, M.; Colombo, A.; Maserati, E.; Pasquali, F.; Burgio, G.R.
Helvetica Paediatrica Acta 42(5-6): 457-461
1987
ISSN/ISBN: 0018-022X PMID: 3454351 Document Number: 295352
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.