X五体综合征：一例病例及文献综述
X pentasomy: a case and review.
作者信息
Archidiacono N, Rocchi M, Valente M, Filippi G
出版信息
Hum Genet. 1979 Nov 1;52(1):69-77. doi: 10.1007/BF00284599.
PMID:527976
Abstract
A 49,XXXXX girl is reported. The most typical features of the patient are: severe mental retardation, serious dental anomalies, various anomalies of the bones, and a high rate of gonadotropins. The few similar cases so far described are reviewed to aid in delineation of this rare syndrome. The implications of Lyon's hypothesis on X-aneuploidies are also discussed.
摘要
报告了一名49,XXXXX女孩。该患者最典型的特征是：严重智力发育迟缓、严重牙齿异常、骨骼多种异常以及促性腺激素水平高。对迄今为止描述的少数类似病例进行了回顾，以帮助界定这种罕见综合征。还讨论了莱昂假说对X染色体非整倍体的影响。
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