5号染色体拷贝数变异致多发畸形的临床表型和遗传学分析  

Phenotypic and genetic analysis of a child featuring multiple malformations due to copy number variation on chromosome 5

作　　者：薛慧琴[1] 孙夏瑜[1] 卢洪涌[1] 周岩[1] 郭跃贞[1] 朱镭[1] 

机构地区：[1]山西省儿童医院、山西省妇幼保健院,太原030013

出　　处：《中华医学遗传学杂志》2014年第1期56-59,共4页Chinese Journal of Medical Genetics

摘　　要：目的明确1例多发畸形患儿染色体拷贝数变异的性质及来源，分析其染色体变异与表型的相关性。方法首先应用常规G显带分析该例患儿及父母外周血染色体核型，然后应用比较基因组杂交芯片（array comparative genomic hybridization, array CGH）技术对该例常规核型分析的结果进行精确定位。结果该患儿常规核型分析为46，XY。arrayCGH结果为del（5）（p15．2p15．33）区段存在14．21Mb缺失；dup（5）（q35．3）区段存在3．67Mb重复。临床表现为智力低下、特殊面容、同时伴有小头畸形、先天性心脏病及脚趾畸形等。患儿父母亲染色体核型正常。结论5号染色体拷贝数变异可导致患儿出现多发畸形；与传统的细胞遗传学分析方法相比，arrayCGH在染色体异常分析中具有更高的分辨率和准确性。Objective To determine the origin of chromosomal aberration for a child featuring multiple malformation, and to correlate the genotype with phenotype. Methods Routine G-banding was performed to analyze the karyotype of the patient and her parents, and array comparative genomic hybridization （array CGH） was used for fine mapping of the aberrant region. Results The karyotype of the child was ascertained as 46,XY. Array CGH has mapped a 14.21 Mb deletion to 5p15.2p15. 33, and a very small 3.67 Mb duplication to 5q35.3. The patient has presented features such as mental retardation, heart defect, low-set ears, hypertelorism and down-slanting palpebral fissures. Conclusion Chromosome 5 copy number variation can cause multiple malformation. In contrast to routine karyotype analysis, array CGH can map aberrant region with much higher resolution and accuracy.

关 键 词：智力低下 染色体拷贝数变异 比较基因组杂交芯片 

分 类 号：R725.9[医药卫生—儿科]