摘要目的：明确两例22号环状染色体的遗传学诊断,探讨其形成机制及其与临床表型的关系。方法应用外周血染色体 G 显带、荧光原位杂交及单核苷酸多态性微阵列芯片分析对两例疑似患者进行检测。结果病例1染色体核型为46,XY,r(22)(p11q13),微阵列检测结果示 arr[Hg19]22q13.2-q13.33(44183172-51211392)×1 dn,杂合缺失约7.0 Mb；病例2染色体核型为46,XY,r(22)(p11q13)[84]/45, XY,-22[6],微阵列检测结果为 arr[Hg19]22q13.33(49612799-51211392)×1 dn,杂合缺失约1.6 Mb。结论联合应用多种遗传学检测技术对两例 r(22)综合征患者明确了诊断,为分析22号环状染色体末端微缺失与临床表型之间的关系提供了新的材料及依据。

abstractsObjective To confirm the genetic diagnosis of two patients with ring chromosome 22 syndrome and investigate the mechanism underlying the formation of r(22)and potential genetic causes for the clinical phenotypes. Methods Cytogenetic and molecular analyses using standard G-banding, fluorescence in situ hybridization and single nucleotide polymorphism array (SNP array)were performed. Results For case 1,the karyotype was 46,XY,r (22 )(p1 1q13 ).SNP array has identified a 7.0 Mb heterozygous deletion at 22q13.2q13.33.For case 2,the karyotype was 46,XY,r(22)(p1 1q13)[84]/45, XY,-22[6 ];SNP array has detected a heterozygous microdeletion of 1.6 Mb at 22q13.33.Conclusion With combined application of genetic testing,2 cases of r(22)syndrome were dignosed,which has improved the understanding of the genotype-phenotype correlation of r(22).