摘要
目的探讨2例SHOX基因杂合缺失胎儿的临床表型及产前诊断。方法选择2022年6月24日和2022年7月27日就诊于南京大学医学院附属鼓楼医院的2名孕妇及其发育迟缓胎儿作为研究对象。采集胎儿的羊水样品,提取基因组DNA,进行单核苷酸多态性微阵列(SNP array)检测和/或FGFR3基因变异检测。结果排除FGFR3基因变异影响后,胎儿1的Xp或Yp末端存在约883 kb的杂合性缺失,胎儿2的Xp末端存在约5.75 Mb的杂合性缺失,2个缺失片段均包含SHOX基因。其中胎儿1的缺失片段来源未知,胎儿2的缺失片段遗传自母亲。胎儿1足月娩出,外观未见异常;胎儿2尚在妊娠中。结论结合超声提示异常、亲代表型及SNP array结果,可解释胎儿的宫内发育迟缓的表型及预测出生后的表型,有助于产前诊断。
Objective To explore the clinical manifestations of two fetuses harboring heterozygous deletions of the SHOX gene.Methods Two pregnant women who had presented at the Prenatal Diagnosis Center of Nanjing Drum Tower Hospital respectively on June 24,2022 and July 27,2022 were selected as the study subjects.In case 1,prenatal ultrasonography had shown short femur and intrauterine growth retardation of the fetus.Case 2 had a history of spontaneous abortions due to structural chromosomal aberrations.Fetus 1 had undergone a test for the FGFR3 gene,and both fetuses were subjected to single nucleotide polymorphism-based microarray(SNP array)analysis.Results Affter excluding the influence of FGFR3 gene Fetus 1 was found to harbor a heterozygous 883 kb deletion at Xpter or Ypter,whilst fetus 2 was found to harbor a 5.75 Mb deletion in the Xpter region.Both deletions have encompassed the SHOX gene.The origin of the deletion in fetus 1 was unknown,whilst that in fetus 2 was inherited from its mother.Fetus 1 has been delivered at term with a normal phenotype,and fetus 2 was not born yet.Conclusion The intrauterine and postnatal phenotypes of fetuses may be predicted by combining the ultrasound finding,parental phenotype and results of CMA,variant,and the results can facilitate genetic counseling and decision making over the pregnancy.
作者
顾雷雷
刘威
朱湘玉
李洁
Gu Leilei;Liu Wei;Zhu Xiangyu;Li Jie(Prenatal Diagnosis Center,Center of Obstetrics and Gynecology,Nanjing Drum Tower Hospital,Nanjing University Medical School,Nanjing,Jiangsu 210008,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2024年第2期205-208,共4页
Chinese Journal of Medical Genetics
