染色体微阵列技术检测父源性t(13;22)非平衡易位22q13缺失综合征一例及文献复习  

Single nucleotide polymorphisms array for detecting paternal t(13;22)unbalanced translocation 22q13 deletion syndrome:a case report and literature review

作　　者：林俊伟[1] 侯红瑛[1] 章钧[1] Lin Junwei;Hou Hongying;Zhang Jun(Department of Obstetrics and Gynecology,the Third Affiliated Hospital of Sun Yat-sen University,Guangzhou 510630,China)

机构地区：[1]中山大学附属第三医院妇产科,广州510630

出　　处：《新医学》2023年第11期826-831,共6页Journal of New Medicine

摘　　要：目的从遗传学角度分析22q13缺失综合征病因。方法应用G显带的染色体核型分析技术及全基因组单核苷酸多态性微阵列分析技术(SNP-array)对一例22q13缺失综合征患儿进行遗传学检测,并对患儿父母进行外周血染色体核型分析,验证患儿染色体异常来源。以“t(13;22)”为检索词,在生物医学文献外文数据库(PubMed)、中国知网全文数据库(CNKI)、万方数据库、重庆维普学术期刊数据库进行检索,收集亲代遗传t(13;22)非平衡易位病例进行分析。结果该例患儿母亲染色体核型分析结果为46,XX,患儿父亲染色体核型分析结果为46,XY,t(13;22)(q31;q13.3),患儿SNP-array分析结果提示13号染色体长臂q31.1q34存在35.8 Mb片段重复,22号染色体长臂q13.3发生1.1 Mb片段缺失,染色体核型分析结果为46,XY,der(22)t(13;22)(q31;q13.3)pat。文献复习3例患者病例表现为智力低下、癫痫、面部畸形、房间隔缺损等,其中一例出生11 d死亡。结论患儿遗传父源性der(22)t(13;22)(q31;q13.3)片段,13号染色体存在35.8 Mb重复,为染色体异常,具有致病性;22号染色体存在1.1 Mb缺失,该变异片段包括已知的遗传综合征区域,即22q13缺失综合征。Objective To analyze the etiology of 22q13 deletion syndrome.Methods Genetic analysis was performed for a baby with 22q13 deletion syndrome using G-banded chromosome karyotype analysis and single nucleotide polymorphisms array(SNP-array)techniques.Chromosomal karyotype analysis of peripheral blood of parents was also conducted to identify the origin of chromosomal abnormality.Literature review was performed using the keywords of“t(13;22)”in PubMed,CNKI,Wanfang Data,Chongqing VIP databases.Cases of parental genetic t(13;22)unbalanced translocation were analyzed.Results The mother’s karyotype was 46,XX,while the father’s karyotype was 46,XY,t(13;22)(q31;q13.3).The results of SNP-array analysis showed 35.80 Mb fragment duplication in 13q31.1q34 and 1.10 Mb fragment deletion in 22q13.3 in the premature baby.The karyotype of the premature baby was 46,XY,der(22)t(13;22)(q31;q13.3)pat.According to literature review,three patients presented with mental retardation,epilepsy,facial deformity and atrial septal defect,etc.One of them died 11 d after birth.Conclusions The child carries a paternally inherited der(22)t(13;22)(q31;q13.3)translocation.Specifically,35.80 Mb fragment duplication is observed in 13q31.1q34,which is abnormal and pathogenic.1.10 Mb fragment deletion is noted in 22q13.3,which includes 22q13 deletion syndrome(PMS).

关 键 词：单核苷酸多态性微阵列技术 染色体非平衡易位 遗传学分析 染色体核型分析 22q13缺失综合征 费伦-麦克德米德综合征 

分 类 号：R725.9[医药卫生—儿科]