1例隐匿性平衡易位导致的家系性Wolf-Hirschhorn综合征  

A case of familial Wolf-Hirschhorn syndrome caused by cryptic balanced translocation

作　　者：张雅冰 刘娇 毛斌 刘琳[1,2] 马晓玲 ZHANG Yabing;LIU Jiao;MAO Bin;LIU Lin;MA Xiaoling(The First School of Clinical Medicine of Lanzhou University,Lanzhou,Gansu,730000,China;Reproductive Medicine Center of The First Hospital of Lanzhou University,Lanzhou,Gansu 730000,China)

机构地区：[1]兰州大学第一临床医学院,甘肃兰州730000 [2]兰州大学第一医院生殖医学中心,甘肃兰州730000

出　　处：《中国优生与遗传杂志》2024年第10期2129-2133,共5页Chinese Journal of Birth Health & Heredity

摘　　要：目的明确一家系中2例发育异常患儿的遗传学病因,对下次妊娠提供生育指导。方法对夫妇进行常规染色体核型分析、染色体拷贝数变异测序(CNV-seq)并进一步通过高分辨率染色体核型分析检测方法,判断异常染色体的来源。对先证者外周血及引产胎儿羊水样本进行CNV-seq检测。结果夫妇常规染色体核型分析结果未见异常。CNV-seq检测显示先证者及胎儿4p末端3.78 Mb和3.86 Mb片段缺失,8q末端6.76 Mb和6.68 Mb的片段重复,而夫妇结果正常。高分辨率染色体核型分析结果显示患儿母亲为4p和8q的隐匿性平衡易位携带者。结论该家系中先证者和引产胎儿均为不平衡性的Wolf-Hirschhorn综合征,其遗传模式和临床表型均与Wolf-Hirschhorn综合征相符,均遗传自母亲的隐匿性平衡异位。常规染色体核型分析、CNV-seq检测以及高分辨率染色体核型分析技术的联合运用,可以有效提高对隐匿性平衡易位夫妇所生Wolf-Hirschhorn综合征患儿的诊断效率。Objective To identify the genetic cause of developmental abnormalities in two children from the same family and provide reproductive guidance for future pregnancies.Methods Conventional karyotype analysis,chromosomal copy number variation sequencing(CNV-seq),and high-resolution karyotype analysis were conducted on the couple to determine the source of the abnormal chromosomes.Routine karyotype analysis and CNV-seq were performed on the proband,and CNV analysis was conducted on the amniotic fluid sample of the induced abortion fetus.Results Routine karyotype analysis of the couple and the proband showed no abnormalities.CNV analysis indicated a 3.78 Mb and 3.86 Mb terminal deletion at 4p,and a 6.76 Mb and 6.68 Mb terminal duplication at 8q in the proband and fetus,whereas the results for the couple were normal.High-resolution karyotype analysis revealed that the mother was a cryptic balanced translocation carrier between 4p and 8q.Conclusion The proband and the induced abortion fetus in this family were both diagnosed with unbalanced Wolf-Hirschhorn syndrome,consistent with the genetic pattern and clinical phenotype of Wolf-Hirschhorn syndrome.The combined use of conventional karyotype analysis,CNV detection,and high-resolution karyotype analysis can effectively improve the diagnostic efficiency for children with Wolf-Hirschhorn syndrome born to couples with cryptic balanced translocations.

关 键 词：隐匿性平衡易位 不平衡性Wolf-Hirschhorn综合征 高分辨率染色体核型分析 临床特征 拷贝数变异测序 

分 类 号：R596.1[医药卫生—内科学]