伴高血糖的10号环状染色体综合征1例的报告  

A Case of Ring Chromosome 10 Syndrome with Hyperglycemia

作　　者：唐燕 王香麟 TANG Yan;WANG Xiangin(Medical Laboratory Department,Chongqing University Affiliated Three Gorges Hospital,Chongqing 404000)

机构地区：[1]重庆大学附属三峡医院医学检验科,重庆404000

出　　处：《智慧健康》2023年第2期149-151,156,共4页Smart Healthcare

摘　　要：目的 探讨1例有10号环状染色体患者的临床表型和细胞遗传学特征。方法 收集1例10号环状染色体患者的症状、体征和影像学检查等临床资料,应用染色体常规G显带技术进行细胞遗传学分析。结果 患者外周血染色体核型:mos 46,XX,r(10)(p15q26)[41]/46,XX,dic r (10;10)[5]/46,XX[4]结论 本例患者有智力、听力及语言功能障碍及血糖血脂代谢异常,其报告对补充环状染色体患者表型多样性有一定帮助。Objective To investigate clinical phenotype and cytogenetic characteristics of a patient with ring chromosome 10.Method:The paper collected clinical data of symptoms,signs and imaging examinations of a patient with ring chromosome 10,and carried out cytogenetic analysis with routine G-banding technique.Results Karyotype of patient's peripheral blood:mos46,XX,r(10)(p15q26)[41]/46,XX,dic r(10;10)[5]/46,XX[4].Conclusion The patient has intelligence,hearing and language dysfunction and abnormal blood glucose and lipid metabolism,whose report is helpful to phenotypic diversity of patients with complement of circular chromosome.

关 键 词：10号环状染色体 综合征 G显带 代谢异常 

分 类 号：R596.1[医药卫生—内科学]