摘要
目的 探讨5p微缺失合并常染色体多态性对不孕症患者临床表型及生殖结局的遗传学效应。方法 应用G显带及C显带+N显带联合单核苷酸多态性微阵列(SNP-array)技术对患者进行孕前外周血染色体核型分析及全基因组拷贝数变异(CNVs)检测。结果 患者外周血染色体核型为46,XX,del(5)(p15.3p15.3),22ph+,[46,XX,del(5)(pter→p15.3::p15.3→qter)];SNP-array检测结果:arr[hg19]5p15.33p15.31(113,576-9768,797)×1,显示患者在5p15.33p15.31处发生长度约为9.655Mb的片段缺失。依据G显带核型分析结果,结合C显带+N显带分析,确定患者22号染色体短臂增加为异染色质增加(22ph+),排除染色体平衡易位携带及片段插入等遗传学异常;行CNVs检测,发现其5p15.3存在片段缺失,未检测到片段重复。患者表型正常,行辅助生殖技术(ART)助孕,结局不良。结论 5p微缺失综合征临床表型应综合考虑缺失位置、片段大小、基因类型等相关因素,细化研究,准确判读;5p微缺失合并22ph+对生育的影响有待进一步研究。
Objective This study aims to investigate the genetic effects of 5p microdeletions combined with auto-somal polymorphisms on clinical phenotypes and reproductive outcomes in patients with infertility.Methods Pre-pregnancy peripheral blood karyotype analysis and genome-wide copy number variants(CNVs)detection were performed using G-band,C-band,N-band combined with single nucleotide polymorphism array(SNP-array)techniques.Results The patient’s periph-eral blood karyotype was 46,XX,del(5)(p15.3p15.3),22ph+,[46,XX,del(5)(pter→p15.3::p15.3→qter)].The SNP-array test results showed arr[hg19]5p15.33p15.31(113,576-9768,797)×1,indicating a fragment deletion of approximately 9.655 Mb in length at 5p15.33p15.31.Based on the results of G-band karyotype analysis and the analysis of C-band and N-band,it was determined that the increase in the short arm of chromosome 22 was an increase in heterochromatin(22ph+),excluding genetic abnormalities such as chromosomal balanced translocation and fragment insertion.CNVs detection revealed a fragment dele-tion in its 5p15.3,and no fragment duplication was detected.The patient was phenotypically normal,but had a poor outcome with assisted reproductive technology(ART)assisted conception.Conclusion The clinical phenotype of 5p microdeletion syndrome should consider deletion location,fragment size,gene type,and other relevant factors to refine the study and inter-pret accurately.The effect of 5p microdeletion combined with 22ph+on fertility requires further study.
作者
杨丽霞
陈坤
周雪源
李淑云
康茹
YANG Lixia;CHEN Kun;ZHOU Xueyuan;LI Shuyun;KANG Ru(The Second Affiliated Hospital of Shandong University of Traditional Chinese Medicine,Jinan,Shandong 250001,China)
出处
《中国优生与遗传杂志》
2023年第8期1669-1673,共5页
Chinese Journal of Birth Health & Heredity
