与轻微先天性异常、巨睾症和脆性X染色体相关的家族性X连锁智力发育迟缓综合征
Familial X-linked mental retardation syndrome associated with minor congenital anomalies, macro-orchidism, and fragile X-chromosome.
作者信息
Pueschel S M, Hays R M, Mendoza T
出版信息
Am J Ment Defic. 1983 Jan;87(4):372-6.
PMID:6829615
Abstract
Three young males of Azorian origin who exhibited significant mental retardation, minor congenital anomalies, behavior disorders, and macro-orchidism were described. The chromosomal analysis revealed a fragile X chromosome in all three patients.
摘要
描述了三名亚速尔群岛血统的年轻男性，他们表现出明显的智力迟钝、轻微先天性异常、行为障碍和巨睾症。染色体分析显示，所有三名患者均存在一条脆性X染色体。
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