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本文报道了4号染色体变异的两种类型的存在和它的发生频率,一种是在着丝粒区显示强荧光带,另一种是在短臂末端(4p13)显示强荧光带。作者对302例进行了染色体分析,他们年龄从新生儿到53岁。其中176例表型正常;77例诊断为早发性痴呆症、智力障碍、发育迟缓及自然流产等;14例早熟;1例两性畸形;7例先天患型;19例染色体非整倍性。外周血培养采用标准的微量法,标本作
This paper reports the existence of two types of chromosome 4 mutations and their frequency of occurrence, one of which shows a strong fluorescent band in the centromeric region and the other shows a strong fluorescent band at the short arm end (4p13). The authors conducted a chromosomal analysis of 302 patients, their age from newborns to 53 years old. Among them, 176 cases were normal phenotypes; 77 cases were diagnosed as early-onset dementia, mental retardation, stunting and spontaneous abortion, etc .; 14 cases were precocious; 1 case had hermaphroditism; 7 cases were congenital; 19 cases were chromosomal aneuploidy. Peripheral blood culture using standard trace method, specimens for