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目的分析额外小标记染色体的来源并阐述其临床意义,以指导遗传咨询及治疗。方法应用染色体G显带技术对2014-2015年于解放军总医院就诊的不孕不育、生长发育异常的患者进行检测,并应用荧光原位杂交技术、实时荧光定量PCR技术对检测出的额外小标记染色体进行进一步分析。结果 2014-2015年共2 386个遗传咨询患者静脉血标本中检测出3个携带额外小标记染色体的标本:28岁男性不育患者,20岁女性原发闭经患者和6岁女性生长发育迟缓患者。确认这3个研究对象的额外小标记染色体分别来源于15号染色体短臂等臂染色体、Y短臂等臂染色体、部分X染色体片段组成的环状染色体。结论额外小标记染色体可导致不育、自然流产、女性闭经、性腺发育异常等,应用细胞遗传学和分子遗传学等检测技术可明确诊断。
Objective To analyze the origin of additional small marker chromosomes and to elucidate its clinical significance to guide genetic counseling and treatment. Methods The G-banding technique was used to detect infertility patients with growth and development abnormalities in the People’s Liberation Army General Hospital from 2014 to 2015. Fluorescence in situ hybridization and real-time fluorescence quantitative PCR were used to detect the extra small Marker chromosomes for further analysis. Results Three samples with extra small marker chromosomes were detected in venous blood samples from 2 386 genetic counseling patients in 2014-2015: 28-year-old male infertility patients, 20-year-old female primary amenorrhea patients and 6-year-old female patients with growth retardation . The additional small marker chromosomes of these three subjects were confirmed to be circular chromosomes composed of arm arm chromosomes such as short arm of chromosome 15, arm arm of Y short arm and part of X chromosome. Conclusion Additional small marker chromosomes can lead to infertility, spontaneous abortion, amenorrhea and abnormal gonadal development in women. It can be diagnosed clearly by using cytogenetics and molecular genetics.