父源性平衡易位致子代猫叫综合征1例  

A case of Cri-du-chat syndrome caused by paternal chromosome balanced translocation

作　　者：王连[1] 张庆华[1] 蔺朋武 郝胜菊[1] WANG Lian;ZHANG Qinghua;LIN Pengwu;HAO Shengju(Gansu Maternal Child Health Care Hospital,Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases,Lanzhou,Gansu 730050,China)

机构地区：[1]甘肃省妇幼保健院/甘肃省出生缺陷与罕见病临床医学研究中心,甘肃兰州730050

出　　处：《中国优生与遗传杂志》2023年第7期1446-1448,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的追踪分析发现1例猫叫综合征(CDCS)的患者,为临床医生把握产前诊断指针及选择多种检测技术联合诊断提供参考。方法对1例高龄、胎儿超声软指标异常的孕妇进行产前诊断,孕妇本人及其丈夫和儿子行外周血染色体核型分析,其儿子行CNVs以明确病因。结果胎儿染色体核型结果为46,X?,t(5:17)(p15.2;q25.3),CNVs结果未见明显异常。先证者CNVs结果显示chr5p15.33p15.2区域存在13.64 Mb的杂合缺失,其外周血染色体结果为46,XY,del(5)(p15.2),提示为猫叫综合征。先证者父亲的外周血染色体结果为46,XY,t(5:17)(p15.2;q25.3),其母亲未见明显异常。结论临床医生应详细询问病史,严格把握产前诊断指针,应用细胞遗传学与分子遗传学相结合的技术综合分析,实现对猫叫综合征的早发现、早干预。Objective We followed up and found one patient with Cri-du-chat syndrome(CDCS),which provided reference for clinicians to grasp the prenatal diagnosis guideline and select multiple detection techniques for joint diagnosis.Methods We made prenatal diagnosis of the pregnant woman with her old age and abnormal ultrasound indicators of her fetal.We also performed karyotype analysis of peripheral blood of the pregnant woman,her husband and son,and performed CNVs on her son to identify the cause of his illness.Results The chromosome karyotype of the fetal was 46,X?,t(5:17)(p15.2;q25.3),no obvious abnormality was found in CNVs results.The CNVs of the proband showed a heterozygous deletion of 13.64 Mb in the chr5p15.33p15.2 region,and the chromosome results were 46,XY,del(5)(p15.2),suggesting that the proband had CDCS.The chromosome results of the proband father were 46,XY,t(5:17)(p15.2;q25.3),the mother showed no obvious abnormality.Conclusion Clinicians should inquire about the medical history in detail,strictly grasp the prenatal diagnosis guidelines,and apply the comprehensive analysis of the combination of cytogenetics and molecular genetics to realize the early detection and early intervention of CDCS.

关 键 词：猫叫综合征 染色体核型分析 CNVs 

分 类 号：R725.9[医药卫生—儿科]