Patacchiola Felice, Sciarra Antonio, Di Fonso Adina, D'Alfonso Angela, Carta Gaspare
University of L'Aquila, L'Aquila, Italy.
J Pediatr Endocrinol Metab. 2012;25(1-2):165-6. doi: 10.1515/jpem-2011-0468.
The 49, XXXXY syndrome is a rare sex chromosome polysomy, first described by Fraccaro and colleagues in 1960. The approximate incidence of this disorder is 1 in 85,000 male births. To date, >100 cases had been published in the literature. Patients with 49, XXXXY syndrome show some peculiar clinical features, such as mental retardation, facial dysmorphism, ambiguous genitalia, and multiple skeletal and cardiac defects. We report a new case of 49, XXXXY syndrome; the first Italian case to our knowledge.
49,XXXXY综合征是一种罕见的性染色体多体性疾病，于1960年由弗拉卡罗及其同事首次描述。这种疾病在男性出生中的发病率约为1/85000。迄今为止，文献中已发表了100多例病例。49,XXXXY综合征患者表现出一些特殊的临床特征，如智力迟钝、面部畸形、生殖器模糊以及多种骨骼和心脏缺陷。我们报告一例新的49,XXXXY综合征病例；据我们所知，这是首例意大利病例。
