16q22脆性位点携带者的临床及遗传学分析

Clinical and genetic analysis of 16q22 fragile site carrier

目的对1例因不育来就诊的男性患者用细胞遗传学方法进行检测,探寻可能存在的遗传学病因。方法采集患者外周血,应用染色体G显带分析和高通量测序技术进行检测。结果患者的染色体核型结果提示为嵌合型的16q22脆性位点携带者,包括染色体裂隙、断裂、缺失等多种表现。基因组拷贝数变异测序结果未见异常。结论fra16q22属于罕见型脆性位点。16q22脆性位点的明确,可以为患者后续的精准治疗和产前诊断提供线索。

Objective To analyze a male patient with infertility by usingcytogenetic methods,and to explore possible genetic causes.Methods Peripheral blood sample was taken from the patient and subjected tochromosomal karyotyping and copy number variation sequencing(CNV-seq).Results The patient was found to be a mosaicism for a fragile site at 16q22,which has a variable morphology.No abnormality was found by CNV-seq.Conclusion Fral6q22 is a rare fragile site.The identification of 16q22 fragile sites can provide clues for subsequent precise treatment and prenatal diagnosis.