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在新生儿中大约1／500出现染色体非整倍体（aneuploid）[1]，特别是在精子配子中其发生频率较高，是引起自然流产、婴儿死亡及神经系统发育迟缓的重要原因[2]。因而人类配子细胞已经成为筛查染色体非整倍体及估计染色体不分离发生的焦点之一。1970年Barlow等曾用阿的平对人类精子核Y染色体长臂染色，通过计数荧光信号判断Y染色体数目[3]，但由于非特异背景，两个Y的频率较高[4]。1978年Rudak首次描述了以“仓鼠穿卵法”制备精于染色体，并用来检测染色体数目及结构异常[5]。但方法复杂，技术难度大，并且只能对那些能穿透仓鼠卵细胞的精子进行分析，因而至今不能做一种常规的检测方法[6]。本文介绍一种简便而快速的检测精子染色体数目异常的方法，以D21Z1／D13Z1、TRX探针与精子问期核进行荧光原位杂交（fluorescenceinsituhybridization，FISH），能准确的计数精子核中染色体数目。
Approximately 1 in 500 neonates present with aneuploid [1], particularly in spermatozoa, which is a frequent cause of spontaneous abortion, infant mortality and neurodevelopmental retardation [2 ]. Thus, human gametocyte has become one of the focuses of screening for chromosome aneuploidy and estimating chromosomal non-segregation. In 1970, Barlow et al. Used Arabidopsis to stain the long arm of Y chromosome of human sperm nuclei and count the number of Y chromosomes by counting fluorescent signals [3]. However, due to the non-specific background, the frequency of both Ys is higher [4]. In 1978, Rudak first described the preparation of chromosomes by the Hamster Ovum method and used it to detect chromosomal number and structural abnormalities [5]. However, the method is complex, the technique is very difficult, and only those who can penetrate the hamster ovum sperm analysis, so far can not do a routine test [6]. This article describes a simple and rapid method for detecting abnormalities in the number of sperm chromosomes. Fluorescence in situ hybridization (FISH) with D21Z1 / D13Z1, TRX probes and sperm asystole nuclei can accurately count the number of chromosomes in the sperm nucleus.