18号环状染色体综合征1例  

A case of 18 ring chromosome syndrome

作　　者：杨慧[1] 文珺[1] 吴量 Yang Hui;Wen Jun;Wu Liang(Department of Pediatrics,First Affiliated Hospital,Nanhua University,Hengyang,Hunan,421000,China;Changsha Jinyu Medical Laboratory,Changsha,Hunan,420000,China)

机构地区：[1]南华大学附属第一医院儿科,湖南衡阳421000 [2]长沙金域医学检验所,湖南长沙420000

出　　处：《当代医学》2019年第23期96-98,共3页Contemporary Medicine

摘　　要：18号环状染色体病例较多,一般来说患儿身材矮小,有特殊面容,体质量增长缓慢,语言能力较弱,韦氏智力量表测试为轻度智能发育迟缓。本文通过分析一例早期染色体患者,韦氏量表检测结果显示平均发育年龄(15.6±1.2)月,平均发育商(77.6±3.0),为中下智能,高度怀疑遗传学致病因素,进行染色体核型分析结果为46,XY,r(18)(p11.3q23);因无法确定片段大小以及是否为致病性,进行染色体微阵列分析,结果为chr18p11.32p11.21区域存在约8.8Mb片段缺失,该缺失文献报道为致病性;另有chr18q23区域存在约918kb片段缺失,临床意义未明。本例患儿也有可能是年龄较小,暂未出现较特殊的临床表现。Generally speaking,there are many cases of chromosome 18,the children have short stature,special face,slow growth of body weight,weak language ability,and mild mental retardation measured by Wechsler Intelligence scale(WIQ).By analyzing an early chromosome patient,Wechsler scale showed that the average developmental age was amount to(15.6±1.2)months and the average developmental quotient was(77.6±3.0).The results of karyotype analysis were 46,XY,r(18)(p11.3q23);Because it is impossible to determine the size of the fragment and whether it is pathogenicity,a chromosome microarray analysis was carried out.There is about 8.8 Mb fragment deletion in chr 18p11.32p11.21 region,which is reported as pathogenicity,and there is about 918 kb fragment deletion in chr 18q23 region,the clinical significance is not clear.It is also possible that this patient is younger and has no special clinical manifestation.

关 键 词：染色体异常 18号环状染色体 端粒融合 发育迟缓 

分 类 号：R725.9[医药卫生—儿科]