摘要
目的明确一家系中发育迟缓伴多发畸形先证者的遗传学病因,对本次妊娠胎儿进行产前诊断。方法对胎儿进行羊水染色体核型分析,并进一步应用单核苷酸多态性基因芯片对先证者及本次妊娠胎儿进行检测。对孕妇夫妻进行染色体核型分析以及荧光原位杂交(fluorescence in situ hybridization, FISH)检测,判断异常染色体的来源。结果胎儿羊水染色体核型未见异常。基因芯片检测显示先证者及胎儿均携带4p末端5.4 Mb的片段缺失,6q末端6.9 Mb的片段重复。FISH检测显示该孕妇为4p和6q的隐匿性平衡易位携带者。结论该家系中先证者及本次妊娠胎儿均为不平衡性的Wolf-Hirschhorn综合征,临床表型均与Wolf-Hirschhorn综合征表型相符,同时伴有部分6q三体的临床表型。高分辨率的基因芯片合并相关FISH检测分析不平衡易位的来源,有助于遗传咨询和再发风险评估。
Objective To make molecular diagnosis of an infant affected with severe developmental delay and multiple birth defects, assisting prenatal diagnosis for the second pregnancy. Methods Standard G-banded karyotyping was performed for the fetus and his parents. Single nucleotide polymorphism array (SNP array) was used to detect submicroscopic chromosomal aberration. Fluorescence in situ hybridization (FISH) was employed to determine the parental origin of the aberration. Results Both the proband and the fetus harbored a 5.4 Mb distal 4p deletion and a 6.9 Mb distal 6q duplication. FISH confirmed that the mother has carried a balanced translocation involving 4p and 6q. Conclusion The unbalanced chromosomal aberration in the proband and the fetus were both derived from the mother. Both patients showed a Wolf-Hirschhorn syndrom phenotype and partial phenotype of 6q trisomy. SNP array combined with FISH are essential for the detection of cryptic chromosomal aberrations which may be missed by coventional karyotyping analysis.
作者
邢娅
熊诗诣
袁美贞
邓林贝
周佳
邹刚
孙路明
Xing Ya;Xiong Shiyi;Yuan Meizhen;Deng Linbei;Zhou Jia;Zou Gang;Sun Luming(Department of Fetal Medicine, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai 201204, China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2019年第7期682-685,共4页
Chinese Journal of Medical Genetics
基金
申康新兴前沿技术联合攻关项目(SHDC 12016117).
