精子大头多尾畸形与性染色体异常

目的 探讨精子畸形与精子染色体异常的关系，了解畸形精子的病理学改变，方法 应用光学和电子显微镜，性染色体特异性探针荧光原位杂交（FISH）技术研究罕见的大头多尾畸形精子。结果 巴氏染色后观察的精子畸形率达98．75％（油镜下测量头部畸形达100％），精子多尾率达60．25％（最多达8尾），电镜观察证实，精子头部表面凹凸不平，核型极不规则，有大量细胞质结构，尾部除数量异常外，尚有中心粒，线粒体和鞭毛结构的异常，FISH结果证实，性染色体多体率为61．4％，与精子多尾的组成比有大致的平行关系。结论 尽管体细胞染色体正常，畸形精子人可伴有严重染色体异常。

Malformed macrocephalous sperm with polytails and chromosomal aberrance

OBJECTIVE: To investigate the relationship between sperm anomalies and chromosomal aberrance and to further understand the pathological changes of anomalous spermatozoa. METHODS: Light and electronic (SEM or TEM) microscopes were used for morphological analysis. Fluorescence in situ hybridization(FISH) with chromosome X-, Y-specific probes were used for aneuploidy detection in sperms of the patient. RESULTS: Ninety eight point seven five per cent of the Papanicolaou stained sperms were observed to be abnormal; 100% of the sperm heads were abnormal, measured under oil objective (1000 times); 60.25% of the sperms had two or more tails (the maximum being eight tails). SEM and TEM demonstrated that the heads contained a large amount of cytoplasmic structure, the surfaces of heads were uneven, the nuclei were of much irregular shape; besides aberrance in quantity, anomalies occurred with centromeres, mitochondria and flagella in the tails. The results of FISH showed that the aneuploidy rate of sex chromosomes was 61.41% which was parallel to the rate of polytails. CONCLUSION: Even though the chromosomes in somatic cells are normal, the chromosomes in anomalous sperms may be abnormal.