嵌合型8-三体综合征一例并文献复习

A case of trisomy chimerism on chromosome 8 and literature review

目的总结8-三体综合征患者的临床表现。方法采用常规方法进行外周血培养,制备染色体标本,G显带染色体核型分析,并结合文献分析此类患者的临床表现。结果该例患儿常规核型分析结果为47,XX,+8[10]/46,XX[10],8-三体的嵌合比例为50%,患者身材矮小,肋骨外翻。结论8-三体综合征为较少见核型异常,临床表现为包括特殊面容、轻度发育迟缓、轻到中度智力低下、发育异常、癫痫、语言障碍等。

Objective To summarize the clinical manifestations of patients with 8-trisomy syndrome.Methods Using conventional methods for peripheral blood culture,preparing chromo some specimens,G-banding chromosome karyotype analysis,and combining literature to analyze the clinical manifestations of such patients.Results The result of routine karyotype analysis of this child was 47,XX,+8[10]/46,XX[10].The chimerism ratio of trisomy 8 was 50%,and the patient had short stature and valgus ribs.Conclusion Trisomy 8 is a rare karyotype abnormality.The clinical manifestations include special facial features,mild developmental delay,mild to moderate mental retardation,developmental abnormalities,epilepsy,language disorders,etc.