与“平衡”染色体重排相关的智力迟钝
Mental retardation associated with "balanced" chromosome rearrangements.
作者信息
Funderburk S J, Spence M A, Sparkes R S
出版信息
Am J Hum Genet. 1977 Mar;29(2):136-41.
Abstract
Balanced chromosome rearrangements were found in seven of 455 retarded children vs. four of 1,679 nonretarded, psychiatric children (P less than .05). The combined incidence of non-Robertsonian balanced rearrangements from this and reported surveys of the mentally retarded was five times greater than that from newborn surveys, whereas Robertsonian translocations were not increased among the retarded. The combined data show an increase in de novo rather than familial rearrangements among the retarded; the increase in de novo rearrangements is specifically for non-Robertsonian translocation.
摘要
在455名智力发育迟缓儿童中，有7名被发现存在平衡染色体重排，而在1679名非智力发育迟缓的精神疾病儿童中，有4名存在平衡染色体重排（P<0.05）。此次研究以及此前针对智力发育迟缓者的调查中，非罗伯逊平衡重排的合并发生率比新生儿调查中的发生率高五倍，而罗伯逊易位在智力发育迟缓者中并未增加。综合数据表明，智力发育迟缓者中新生重排而非家族性重排有所增加；新生重排的增加 specifically 针对非罗伯逊易位。（注：原文中“specifically”翻译时感觉语义不太明确，这里保留英文，可根据实际情况进一步确定准确含义后完善）
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