Warburton D
Pediatr Clin North Am. 1980 Nov;27(4):753-69. doi: 10.1016/s0031-3955(16)33924-4.
New techniques in chromosome analysis provide more precision in the identification of chromosomal abnormalities than was previously possible. Specific small chromosome changes can now often be related to defined syndromes of mental retardation and congenital anomalies, or to malignant disease. Some aspects of chromosomal function can also be investigated cytologically, e.g., abnormalities in DNA repair, susceptibility to damaging agents, DNA replication sequences, and sites of inactive heterochromatin and of actively transcribing ribosomal DNA. Future trends will involve even finer resolution of the chromosomal bands, using both extended chromosomes and probes specific for small chromosomal regions, as well as continued localization of specific genes on the cytologic map.
染色体分析的新技术在识别染色体异常方面比以往更加精确。现在，特定的小染色体变化常常可与明确的智力迟钝和先天性异常综合征相关联，或者与恶性疾病相关。染色体功能的某些方面也可以通过细胞学方法进行研究，例如DNA修复异常、对损伤因子的敏感性、DNA复制序列以及无活性异染色质和活跃转录核糖体DNA的位点。未来的趋势将包括使用延长的染色体和针对小染色体区域的特异性探针，对染色体带进行更精细的分辨率分析，以及在细胞学图谱上继续定位特定基因。
