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与标记X相关的智力迟钝。对150名智力迟钝男性的研究。

Marker X-associated mental retardation. A study of 150 retarded males.

作者信息

Kähkönen M, Leisti J, Wilska M, Varonen S

出版信息

Clin Genet. 1983 Jun;23(6):397-404. doi: 10.1111/j.1399-0004.1983.tb01973.x.

DOI:10.1111/j.1399-0004.1983.tb01973.x
PMID:6576874
Abstract

One hundred and fifty male patients with mental retardation of unknown origin were studied cytogenetically. Six patients (4%) were marker X-positive. All these index cases were found in a subgroup of patients with no dysmorphic features, significant neurological findings or childhood psychosis. In this subgroup the frequency was 8.8%. One of the index cases had a family history suggestive of X-linked mental retardation, four had retarded 1st degree relatives and one had no family history of mental retardation.

摘要

对150例病因不明的男性智力障碍患者进行了细胞遗传学研究。6例患者(4%)X染色体标记阳性。所有这些索引病例均来自一组无畸形特征、明显神经学表现或儿童期精神病的患者亚组。在该亚组中,发生率为8.8%。其中1例索引病例有提示X连锁智力障碍的家族史,4例有智力发育迟缓的一级亲属,1例无智力障碍家族史。

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1
Marker X-associated mental retardation. A study of 150 retarded males.与标记X相关的智力迟钝。对150名智力迟钝男性的研究。
Clin Genet. 1983 Jun;23(6):397-404. doi: 10.1111/j.1399-0004.1983.tb01973.x.
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Dissociation between mental retardation and fragile site expression in a family with fragile X-linked mental retardation.一个患有脆性X连锁智力迟钝的家族中智力迟钝与脆性位点表达的分离
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Linkage analysis of X-linked mental retardation with and without fragile-X using factor IX gene probe.使用凝血因子IX基因探针,对伴有和不伴有脆性X染色体的X连锁智力迟钝进行连锁分析。
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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.
3
The fragile X syndrome: the patients and their chromosomes.
脆性X综合征:患者及其染色体
J Med Genet. 1984 Apr;21(2):84-91. doi: 10.1136/jmg.21.2.84.
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A community study of severe mental retardation in the West Midlands and the importance of the fragile X chromosome in its aetiology.西米德兰兹郡严重智力迟钝的社区研究以及脆性X染色体在其病因学中的重要性。
J Med Genet. 1985 Aug;22(4):258-66. doi: 10.1136/jmg.22.4.258.
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Unaffected carrier males in families with fragile X syndrome.患有脆性X综合征的家族中未受影响的男性携带者
Am J Hum Genet. 1985 Sep;37(5):956-64.
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Further segregation analysis of the fragile X syndrome with special reference to transmitting males.脆性X综合征的进一步分离分析,特别涉及传递男性。
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Hum Genet. 1987 Sep;77(1):85-7. doi: 10.1007/BF00284720.
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