| 柳州地区遗传咨询者罗伯逊易位核型与临床表现 |
| |
| 引用本文： | 程红革,李涌,李远眺,戴盛明. 柳州地区遗传咨询者罗伯逊易位核型与临床表现[J]. 中国优生与遗传杂志, 2009, 0(11): 40-41 |
| |
| 作者姓名： | 程红革 李涌 李远眺 戴盛明 |
| |
| 作者单位： | 广西柳州市工人医院检验科,545005 |
| |
| 摘 要： | 目的分析罗伯逊易位与临床的关系。方法采用外周血淋巴细胞培养和染色体G显带分析,对2530例在我院接受遗传咨询者进行了染色体分析。结果共检出罗伯逊易位携带者16例,占0.63%,其中以rob（13;14）为常见（7例）,其次为rob（14;21）（5例）,成年携带者就诊原因多为流产、死胎和不育不孕,而儿童携带者多为发育异常,其中3例为罗伯逊易位21三体型。结论罗伯逊易位与流产、生育21三体型患儿密切相关,其携带者夫妇妊娠时应做产前诊断。
|
| 关 键 词： | 染色体 罗伯逊易位 携带者 |
Robertsonian translocation caryotype and clinical manifestation |
| |
| Affiliation: | CHENG Hong -ge, LI Yong, LI Yuan -tiao, DAI Sheng - ming. ( Department of Clinical Laboratory, the Fourth Hospital Affiliated Guangxi Medical University, Liazhou, 545005, Guangxi Province, 545005 ) |
| |
| Abstract: | Objective： To analyze the relation between Robertsonian translocation and the clinical manifestation. Methods： A total number of 2530 cases who came for inheritance consultation received peripheral blood lymphocyte culture and chromosome banding analysis. Results： Sixteen cases （0. 63% ） were found to be Robertsonian translocation carriers including 7 with rob （13; 14）, 5 with rob （ 14; 21 ）. The main reasons for visiting hospital among adult carriers were abortion, fetal death and infertility against dysplasia in child carriers. Three cases were 21 Trisomy. Conclusion： Robertsonian translocation is closely related to abortion and babies born with 21 trisomy . The couples with Robertsonian translocation carriers should received prenatal diagnosis. |
| |
| Keywords: | Chromosome Robertsonian translocation Carrier |
| 本文献已被 维普 等数据库收录！ |
|
