荧光原位杂交结合Y染色体微缺失技术对额外小标记染色体的鉴定

Fluorescence in situ hybridization combined Y chromosome microdeletion assay in identifying small supernumerary marker chromosome

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 identify the origin and clinical significance of small supernumerary marker chromosome, and provide information for genetic counseling and treatment. Methods Chromosome karyotype of infertility and abnormal development patients admitted to Chinese PLA General Hospital from 2014 to 2015 were detected by G-binding technique, and fluorescence in situ hybridization technique and real-time PCR were performed to analyze the samples with small supernumerary marker chromosome.Results Three subjects were screened out from 2 386 genetic counseling subjects from 2014 to 2015 with small supernumerary marker chromosome： a 28 years old male patient with infertility, a 20 years old female patient with primary amenorrhea and a 6 years old male patient with growth retardation. The three small supernumerary marker chromosomes originated from chromosome 15, chromosome Y and chromosome X. Conclusion Small supernumerary marker chromosome can result in infertility, spontaneous abortion, amenorrhea, gonad dysplasia and so on, which can be clearly diagnosed using cytogenetic and molecular genetic techniques.