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目的对1例因身材矮小就诊的Turner综合征患儿所携带的额外小标记染色体(small supernumerary marker chromosome,s SMC)进行来源分析,以探讨其与患儿临床表型的相互关系。方法综合应用外周血培养染色体核型G显带、荧光原位杂交(fluorescence in situ hybridization,FISH)、聚合酶链反应(polymerase chain reaction,PCR)等技术对患者额外小标记染色体的来源进行分析。结果 G显带分析显示患者染色体核型为45,X0/46,X,-X,+mar1/46,X,-X,+mar2(62‥30‥8)。FISH结果显示两种s SMC均来源于Y染色体,较小者(mar1)呈带有单着丝粒的染色体小片段状,较大者(mar2)以双着丝粒染色体形式存在。经PCR法证实患儿s SMC中存在SRY基因片段。结论对于存在s SMC的Turner综合征患者,应进一步结合多种分子遗传学方法确认s SMC的具体来源,为进一步明确诊断、指导治疗及遗传咨询提供重要的客观依据。
Objective To analyze the origin of a small supernumerary marker chromosome (SMC) carried by 1 patient with short stature due to Turner’s syndrome in order to explore its relationship with clinical phenotype in children. Methods The origin of additional small marker chromosomes in patients were analyzed by G - banding, fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) in peripheral blood. Results G-banding showed that the karyotype was 45, X0 / 46, X, -X, + mar1 / 46, X, -X, + mar2 (62 ‥ 30 ‥ 8). FISH results showed that both s SMCs were derived from the Y chromosome, the smaller one (mar1) was a chromosome with a centromeric small fragment, the larger (mar2) exists as dicentric chromosomes. The SRY gene fragment was confirmed by PCR in SMC of children. Conclusion For patients with Turner syndrome who have s SMC, the specific sources of s SMC should be further confirmed by combining various molecular genetics methods, which provide an important objective basis for further diagnosis, guidance treatment and genetic counseling.