Chromosome abnormalities identified in 347 spontaneous abortions collected in Japan
Chromosome abnormalities identified in 347 spontaneous abortions collected in Japan
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DOI：
10.1111/j.1447-0756.2004.00191.x
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发表时间：
2004-06-01
影响因子：
1.6
通讯作者：
Knops, J
中科院分区：
文献类型：
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作者：
Nagaishi, M;Yamamoto, T;Knops, J
目的：我们确定了特定的染色体异常的发病率在这个日本人口，以便比较可以作出其他population.Methods报告的染色体异常的发病率：共收集了423例自然流产的受孕产品的细胞遗传学分析，从位于日本的各个医疗站点。细胞遗传学结果，沿着临床信息，包括流产时的胎龄和母亲年龄，被编辑在数据库中。确定特定染色体畸变的发生率。异常分离时的流产和产妇年龄的胎龄。结果：可用于细胞遗传学分析的标本总数为407。347例（85.3%）获得细胞遗传学结果，其中196例（56.5%）显示染色体异常。常染色体三体120例，占异常的61.2%。除1、5、6、11、12和19号染色体外，每个常染色体均为三体。常染色体三体最常见的是16号染色体三体（30例），其次是21号染色体三体（13例）和22号染色体三体（13例）。8例为双三体，1例为三条染色体三体。21号染色体单体2例，45号染色体单体24例。27例病例检测到三倍体，5例病例检测到四倍体。在11例病例中发现了不平衡的结构重排，在2例病例中发现了平衡易位。6例显示嵌合体：3例显示一个正常细胞系; 3例显示多个异常细胞系。按发生流产时的胎龄区分三体显示，7、8、14、15、16和22三体仅发生在妊娠早期，而4、13、18和21三体的胎儿存活到妊娠中期。在日本自然流产中检测到的染色体异常的总体模式与文献中报告的相似。
Objective: We determined the incidence of specific chromosome abnormalities in this Japanese population so that comparisons could be made to the incidence of chromosome abnormalities reported for other populations.Methods: A total of 423 cases of products of conception aborted spontaneously were collected for cytogenetics analysis from various medical sites located in Japan. The cytogenetic results, along with clinical information including gestational age at the time of the miscarriage and maternal age, were compiled in a database. The incidence of specific chromosome aberrations was determined. The abnormalities were separated by gestational age at the time of the miscarriage and by maternal age.Results: The total number of specimens available for cytogenetic analysis was 407. Cytogenetic results were obtained for 347 cases (85.3%), of which 196 (56.5%) showed chromosome abnormalities. Autosomal trisomy was detected in 120 cases (61.2% of the abnormal cases). Trisomy for each autosome, with the exception of chromosomes 1, 5, 6, 11, 12, and 19, was identified. The most common autosomal trisomy was that of chromosome 16 (30 cases), followed by trisomy 21 (13 cases), and trisomy 22 (13 cases). Eight cases showed double trisomies, and one case showed trisomy for three different chromosomes. Two cases showed monosomy 21, and 24 cases showed 45,X. Triploidy was identified in 27 cases and tetraploidy was detected in five cases. Unbalanced structural rearrangements were found in 11 cases, and balanced translocations were identified in two cases. Six cases showed mosaicism: three cases showed a normal cell line; and three cases had multiple abnormal cell lines. Separating the trisomies by the gestational age at which time the miscarriage occurred revealed that trisomies 7, 8, 14, 15, 16 and 22 occurred exclusively during the first trimester and fetuses with trisomies 4, 13, 18 and 21 survived late into the second trimester.Conclusion: Overall patterns of chromosome abnormalities detected in spontaneous abortions in Japan were similar to those reported in the literature.