[一名4岁患儿的48,XXYY综合征]
[48,XXYY syndrome in a 4-year-old subject].
作者信息
Cammarata M, Corsello G, Benigno V, Parisi M, Giuffrè L
出版信息
Pediatr Med Chir. 1986 Jan-Feb;8(1):135-6.
PMID:3725607
Abstract
The authors present a four years old boy with genitalic infantilism, mild mental retardation and karyotype 48, XXYY. This rare gonosomic aneuploidy is exceptionally discovered during childhood because it is diagnosed in most of cases after puberty for its phenotype similar to the Klinefelter's Syndrome.
摘要
作者报告了一名4岁男孩，患有生殖器幼稚症、轻度智力发育迟缓，核型为48, XXYY。这种罕见的性染色体非整倍体在儿童期极少被发现，因为大多数病例是在青春期后因其表型与克兰费尔特综合征相似而被诊断出来的。
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