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由于进行染色体分析的例数日益增多,使得有可能确定多种罕见的部份三体和单体综合征。1977年Francke等首先报道了部份11q三体引起的综合征。此后又报道几个涉及11号染色体长臂易位的家系。本文根据作者的一个病例和文献中发表的20个病例,对部份11q三体综合征进行综述。特别注意11q三体片段的长度和所引起综合征的严重性之间的关系。部份11q三体综合征在21个病例中13例患者有46条染色体,8例患者有47条染色体。
Due to the increasing number of chromosome analyzes performed, it is possible to identify a number of rare partial trisomy and haplotypes. In 1977, Francke et al. First reported some 11q trisomy-induced syndromes. Since then there have been several reports of families involving the long arm of chromosome 11 translocation. In this paper, according to a case of the author and 20 cases published in the literature, some 11q trisomy syndromes are reviewed. Pay particular attention to the relationship between the length of the 11q trisomic fragment and the severity of the syndrome caused. Some 11q trisomy 13 out of 21 cases had 46 chromosomes and 8 had 47 chromosomes.