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家族性X连锁智力迟钝、语言障碍和标记X染色体。

Familial X-linked mental retardation, verbal disability, and marker X chromosomes.

作者信息

Howard-Peebles P N, Stoddard G R, Mims M G

出版信息

Am J Hum Genet. 1979 Mar;31(2):214-22.

Abstract

Cytogenetic and verbal studies were done on members of four families with non-specific X-linked mental retardation. Cytogenetic analysis was done using media 199 and GTG-banding; one family had a marker X with a fragile site in band Xq27 or 28. Preliminary results indicate variation of culture conditions can effect the frequency of the marker X. A generalized language disability was found which tended to concentrate in the areas of auditory reception, auditory sequential memory, visual closure and grammatic closure. Articulation errors involved the same sounds which are late in normal development and occur most frequently in both the general population and a Down syndrome population.

摘要

对四个患有非特异性X连锁智力迟钝家族的成员进行了细胞遗传学和语言研究。使用199培养基和GTG显带进行细胞遗传学分析;一个家族有一条在Xq27或28带具有脆性位点的标记X染色体。初步结果表明,培养条件的变化会影响标记X染色体的出现频率。发现了一种普遍的语言障碍,这种障碍倾向于集中在听觉接受、听觉序列记忆、视觉闭合和语法闭合等方面。发音错误涉及正常发育中较晚出现且在普通人群和唐氏综合征人群中最常出现的相同音素。

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