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X连锁隐性遗传的非特异性智力迟钝。一个大家庭的报告。

X-linked recessively inherited non-specific mental retardation. Report of a large family.

作者信息

Deroover J, Fryns J P, Parloir C, Van den Berghe H

出版信息

Ann Genet. 1977 Dec;20(4):263-8.

PMID:305754
Abstract

A large kindred is described in which 22 males and 3 females show non-specific mental retardation with impaired speech. An X-linked recessive is the most likely mode of inheritance of this condition. Similar families have been described in the literature, characteristic physical abnormalities are absent and performance I.Q. tends to be higher than verbal I.Q. This possible heterogenous condition may be a major individual cause of mental deficiency in males, and may account for the excess of male retardates in the population.

摘要

本文描述了一个大家族,其中22名男性和3名女性表现出伴有言语障碍的非特异性智力迟钝。X连锁隐性遗传是这种疾病最可能的遗传方式。文献中已描述过类似的家族,其特征是没有明显的身体异常,操作智商往往高于言语智商。这种可能具有异质性的疾病可能是男性智力缺陷的一个主要个体原因,也可能是导致人群中男性智力迟钝者过多的原因。

相似文献

1
X-linked recessively inherited non-specific mental retardation. Report of a large family.X连锁隐性遗传的非特异性智力迟钝。一个大家庭的报告。
Ann Genet. 1977 Dec;20(4):263-8.
2
Nonspecific X-linked mental retardation I: a review with information from 24 new families.非特异性X连锁智力迟钝I:来自24个新家族信息的综述
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X-linked mental retardation: a study of 7 families.X连锁智力迟钝:对7个家族的研究
Am J Med Genet. 1980;7(4):471-89. doi: 10.1002/ajmg.1320070408.
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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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[Sex-linked recessively inherited oligophrenia (author's transl)].X连锁隐性遗传性智力发育不全(作者译)
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Fragile X chromosome and X-linked mental retardation.脆性X染色体与X连锁智力障碍
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X-linked mental retardation and verbal disability.
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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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引用本文的文献

1
Fragile X-linked mental retardation of macro-orchidism.脆性X连锁智力低下伴巨睾症
West J Med. 1982 Oct;137(4):278-81.
2
Nonspecific X-linked mental retardation--a review.非特异性X连锁智力迟钝——综述
Hum Genet. 1982;62(2):95-109. doi: 10.1007/BF00282294.
3
Fragile (X) X-linked mental retardation. II. Frequency and replication pattern of fragile (X)(q28) in heterozygotes.脆性X连锁智力迟钝。II. 杂合子中脆性X(q28)的频率和复制模式。
Am J Hum Genet. 1984 May;36(3):640-5.
4
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.
5
Activity of the fragile X in heterozygous carriers.脆性X在杂合子携带者中的活性。
Am J Hum Genet. 1982 Mar;34(2):286-93.
6
A new form of X-linked mental retardation with growth retardation, deafness, and microgenitalism.一种伴有生长发育迟缓、耳聋和小生殖器的X连锁智力障碍新类型。
Am J Hum Genet. 1980 Sep;32(5):714-22.
7
Adult fragile X syndrome. Clinico-neuropathologic findings.
Acta Neuropathol. 1985;67(3-4):289-95. doi: 10.1007/BF00687814.
8
A comparison of language characteristics of mentally retarded adults with fragile X syndrome and those with nonspecific mental retardation and autism.患有脆性X综合征的智障成年人与患有非特异性智障和自闭症的成年人的语言特征比较。
J Autism Dev Disord. 1987 Dec;17(4):457-68. doi: 10.1007/BF01486963.
9
Non-specific X linked mental retardation.
J Med Genet. 1991 Jun;28(6):378-82. doi: 10.1136/jmg.28.6.378.
10
X-linked mental retardation with macro-orchidism and marker X chromosomes.
Hum Genet. 1979 Sep;50(3):247-51. doi: 10.1007/BF00399389.