Helv Paediatr Acta. 1987 Jun;42(5-6):457-61. The 47,XXY karyotype and unrelated malformative patterns: an unusual association. Aricò M, Colombo A, Maserati E, Pasquali F, Burgio GR. Source Clinica Pediatrica dell'Università, IRCCS Policlinico S. Matteo, Italia. 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.
The 47,XXY karyotype and unrelated malformative patterns. An unusual association
MASERATI, EMANUELA;PASQUALI, FRANCESCO;
1987-01-01
Abstract
Helv Paediatr Acta. 1987 Jun;42(5-6):457-61. The 47,XXY karyotype and unrelated malformative patterns: an unusual association. Aricò M, Colombo A, Maserati E, Pasquali F, Burgio GR. Source Clinica Pediatrica dell'Università, IRCCS Policlinico S. Matteo, Italia. 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.
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