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The 47,XXY karyotype and unrelated malformative patterns: an usual association
No full textHelv 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
La medicina preventiva, patrimonio culturale dei pediatri. I. Argomenti emergenti per il bambino, anzi, già per il neonato
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