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21三体综合征合并染色体平衡易位t(5;8)一例
染色体是遗传物质基因的载体.人类有3~4万个基因,分别位于23对染色体上,组成24个基因连锁群[1],如果染色体数目或结构发生异常,则会导致基因群的增减或位置转移,扰乱遗传物质或基因间的平衡,而产生多种畸形或异常综合征.现已发现人类染色体数目异常和结构畸变有1万多种,已确定或报道的染色体综合征100多种.近,我们发现1例罕见的染色体异常核型,现报告如下.
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Objective To examine the relationship between spontaneous abortion and chromosomal abnormalities.Methods Couples who had one or more consecutive spontaneous abortions and had normal genitals were enrolled for cytogenetic karyotype analysis. Results In the 61 couples, the detected incidence was 11.5%, with five Robertsonian translocations, one reciprocal translocation, and one pericentric inversion of chromosome 7. Conclusion Chromosomal abnormalities may play an important role in fetal wastage.