摘要
目的 明确2例新发额外小标记染色体(supernumerary small marker chromosomes,sSMCs)的来源,探讨猫眼综合征的产前诊断.方法 对2例羊水染色体核型分析提示为携带额外标记小染色体的胎儿进行羊水细胞单核苷酸多态性微阵列技术(single nucleotide polymorphism array,SNP-array)检测,并用荧光原位杂交技术进行验证.结果 2例胎儿羊水细胞SNP-array检测的结果相同,均为arr[hg19]22q11.1q11.21(16 888 899~18 649 190)×4,提示22号染色体q11.1q11.21区域存在基因组拷贝数增加,拷贝数为4,涉及片段大小为1.7 Mb;荧光原位杂交结果为47,XN,+mar.ish idic(22) (q11.2)(RP11-958H20++).胎儿娩出后外观符合猫眼综合征的典型表现.结论 明确了2例猫眼综合征的产前诊断,为遗传咨询提供了依据.
Objective To determine the origin of supernumerary small marker chromosomes(sSMCs)carried by two fetuses.Methods Single nucleotide polymorphism array(SNP-array)and fluorescence in situ hybridization(FISH)analysis were carried out on cells cultured from the amniotic fluid samples.Results SNP-array analysis showed both fetuses to be arr[hg19]22q11.1 q 11.21(16 888 899-18 649 190)×4,with a duplicated 1.7 Mb region(16 888 899-18 649 190)leading to partial tetrasomy of 22q11.1-22q11.21.FISH confirmed that both fetuses were 47,XN,+mar.ish idic(22)(q11.2)(RP11-958H20++),which suggested a diagnosis of cat-eye syndrome(CES).The appearance of abortuses were consistent with the diagnosis of CES.Conclusion Two fetuses with CES were diagnosed by genetic testing.The latterhas provideda basis for genetic counseling.
作者
吴小青
安刚
何德钦
沈清梅
蔡美英
黄海龙
林元
徐两蒲
Wu Xiaoqing;An Gang;He Deqin;Shen Qingmei;Cai Meiying;Huang Hailong;Lin Yuan;Xu Liangpu(Center of Prenatal Diagnosis,Fujian Provincial Maternity and Child Health Hospital,Fuzhou,Fujian 350001,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2019年第5期498-501,共4页
Chinese Journal of Medical Genetics
基金
福建省科技厅重大专项(2013YZ0002-1)
福建省自然科学基金(2017J01238).
关键词
额外小标记染色体
单核苷酸多态性微阵列技术
荧光原位杂交
猫眼综合征
Supernumerary small marker chromosomes
Single nucleotide polymorphism array
Fluorescence in situ hybridization
Cat-eye syndrome
作者简介
通信作者:徐两蒲,Email:ipxiu304@126.com
