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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.

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。

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引用本文的文献

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Clinical and cytogenetic survey of institutionalized mentally retarded patients with emphasis on the fragile-X syndrome.对机构收容的智障患者进行临床和细胞遗传学调查，重点关注脆性X综合征。
J Intellect Disabil Res. 1993 Apr;37 ( Pt 2)(Pt 2):131-42. doi: 10.1111/j.1365-2788.1993.tb00580.x.
2
Brief report: low frequency of the fragile X syndrome among Japanese autistic subjects.简短报告：日本自闭症患者中脆性X综合征的低发病率
J Autism Dev Disord. 1993 Mar;23(1):201-9. doi: 10.1007/BF01066429.
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Inactivation pattern of the fragile X in heterozygous carriers.

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Frequency of the fragile X syndrome in Japanese mentally retarded males.日本男性智障者中脆性X综合征的发病率
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Nonspecific X-linked mental retardation II: the frequency in British Columbia.非特异性X连锁智力迟钝II：不列颠哥伦比亚省的发病率
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Replication pattern in XXY cells with fra(X).具有脆性X染色体的XXY细胞中的复制模式。
Hum Genet. 1982;60(3):278-80. doi: 10.1007/BF00303019.
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Fragile site X chromosomes and X-linked mental retardation in severely retarded boys in a northern Swedish county. A prevalence study.瑞典北部一郡重度智力迟钝男孩中的脆性X染色体与X连锁智力迟钝：一项患病率研究
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Heritable fragile sites on human chromosomes. VIII. Preliminary population cytogenetic data on the folic-acid-sensitive fragile sites.人类染色体上的遗传性脆性位点。VIII. 关于叶酸敏感脆性位点的初步群体细胞遗传学数据。
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Fragile X-linked mental retardation. A survey of 65 patients with mental retardation of unknown origin.脆性X连锁智力障碍。对65例病因不明的智力障碍患者的调查。
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