对一群智力发育迟缓男性进行脆性X染色体（q）筛查。
Screening for fra(X)(q) in a population of mentally retarded males.
作者信息
Froster-Iskenius U, Felsch G, Schirren C, Schwinger E
出版信息
Hum Genet. 1983;63(2):153-7. doi: 10.1007/BF00291535.
PMID:6682403
Abstract
Among 242 institutionalized mentally retarded males in Northern Germany screened for fra(X)(q), 15 (6.2%) with severe mental retardation expressing fra(X)(q) were detected. One patient displayed Klinefelter's syndrome in addition. All fra(X)(q) males showed the typical facial signs, but three of the adults did not express macroorchidism. A preliminary estimation of an overall frequency of 1:2000 males for the fra(X)(q) condition is suggested.
摘要
在对德国北部242名被收容的男性智障者进行脆性X染色体（q）筛查时，检测到15名（6.2%）患有严重智障且表达脆性X染色体（q）的患者。另外有一名患者还表现出克兰费尔特综合征。所有表达脆性X染色体（q）的男性均表现出典型的面部体征，但有三名成年男性未表现出巨睾症。初步估计脆性X染色体（q）病症在男性中的总体发病率为1:2000。
Zotero 插件