新生儿染色体病41例临床分析  

Clinical analysis of 41 Neonates with Chromosomal Disorder

作　　者：韦露明[1] 高宗燕[1] 钟丹妮[1] 

机构地区：[1]广西医科大学第一附属医院儿科,广西南宁530021

出　　处：《现代预防医学》2012年第12期2946-2947,共2页Modern Preventive Medicine

摘　　要：目的探讨新生儿期常见染色体病核型、临床表现及预防措施。方法对2005年1月～2010年12月在某院住院的41例染色体病患儿母亲围生期并发症、高危因素、患儿临床表现、染色体核型进行回顾性分析。结果41例中孕母有围生期并发症及高危因素者共17例。21-三体综合征29例,18三体综合征1例,猫叫综合征2例,Turner综合征1例,其他各型染色体核型异常8例。所有患儿均有特殊外貌和(或)体征,26例合并其他畸形或疾病,1例新生儿期夭折,1例9月大时死亡。结论新生儿期根据特殊外貌体征和染色体核型分析可诊断染色体病,高龄初产与染色体病存在着相关性。OBJECTIVE To explore the phenotypes of the common chromosomal disorder, clinical characteristics and strategies of prevention. METHODS The maternal perinatal complication, clinical manifestation, chromosomal phenotype of 41 neonates with chromosomal disorders were selected from the First Affiliated Hospital of Guangxi Medical University, and they were retrospectively analyzed in our study. RESULTS Among 41 cases, 17 cases had perinatal complication and risk factors. Of 41 cases, 29 cases had trisomy 21 syndrome, 1 case had trisomy 18 syndrome, 2 cases had cri du chat syndrome, 1 case had turner syndrome, and 8 cases had other abnormal phenotypes. All the cases had characteristic appearances or signs, 16 cases were accompanied with other abnormalities or disease. One case died in neonatal period, and one died at 9 months old. CONCLUSION Chromosomal disorder can be diagnosed according to characteristic appearance, signs and Chromosomal analysis. Elderly primipara is related to Chromosomal disorder.

关 键 词：新生儿 21-三体综合征 18-三体综合征 TURNER综合征 猫叫综合征 

分 类 号：R272.1[医药卫生—中医儿科学]