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X-linked mental retardation with macro-orchidism and marker X chromosomes.

作者信息

Howard-Peebles P N, Stoddard G R

出版信息

Hum Genet. 1979 Sep;50(3):247-51. doi: 10.1007/BF00399389.

DOI:10.1007/BF00399389
PMID:489008
Abstract

A family with X-linked mental retardation and a marker X chromosome was ascertained by the presence of macro-orchidism in the three institutionalized probands. Verbal evaluation revealed a generalized language disability with commonly occurring articulation errors. The heterozygous females in this family exhibited some reduction in mental ability; the marker X chromosome was demonstrated in both sexes.

摘要

相似文献

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X-linked mental retardation with macro-orchidism and marker X chromosomes.
Hum Genet. 1979 Sep;50(3):247-51. doi: 10.1007/BF00399389.
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引用本文的文献

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The role of DNA damage response pathways in chromosome fragility in Fragile X syndrome.DNA损伤反应通路在脆性X综合征染色体脆性中的作用。
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X-linked mental retardation: in pursuit of a gene map.X连锁智力迟钝：追寻基因图谱。

本文引用的文献

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A marker X chromosome.一条标记性X染色体。
Am J Hum Genet. 1969 May;21(3):231-44.
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X-linked nonspecific mental retardation. Report of a large kindred.
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X-linked mental retardation associated with macro-orchidism.与巨睾症相关的X连锁智力障碍。
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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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Fragile site Xq27 and mental retardation. Clinical and cytogenetic manifestation in heterozygotes and hemizygotes of five kindreds.脆性位点Xq27与智力迟钝。五个家系的杂合子和半合子的临床和细胞遗传学表现
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Further delineation of X-linked mental retardation.
Hum Genet. 1981;58(4):366-72. doi: 10.1007/BF00282817.
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Constitutional chromosomal breakage.
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Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium.人类染色体上的脆性位点：其对组织培养基类型依赖性的证明
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Marker X chromosomes and mental retardation.
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Familial X-linked mental retardation with an X chromosome abnormality.
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Marker X chromosomes, mental retardation and macro-orchidism.
N Engl J Med. 1978 Dec 28;299(26):1472. doi: 10.1056/NEJM197812282992625.
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Inherited congenital normofunctional testicular hyperplasia and mental deficiency. A corroborative study.
Hum Genet. 1978 Apr 24;41(3):331-9. doi: 10.1007/BF00284767.
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Familial X-linked mental retardation, verbal disability, and marker X chromosomes.家族性X连锁智力迟钝、语言障碍和标记X染色体。
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