摘要目的 对1例畸形胎儿进行细胞及分子遗传学分析,探讨基因型与表型的关系.方法 对1例产前超声异常的胎儿行G显带染色体核型分析、单核苷酸多态性微阵列(single nucleotide polymorphism array,SNP array)及荧光原位杂交(fluorescence in situ hybridization,FISH)检测.胎儿父母行外周血染色体核型分析及FISH检测.结果 SNP array结果显示胎儿1q44存在4.4 Mb缺失,17q24.3q25.3存在10.4 Mb重复.根据胎儿SNP array和FISH结果及其父母外周血FISH结果,确认胎儿父亲为隐匿性t(1;17)(q44;q24.3)携带者,而胎儿遗传了其中一条衍生的1号染色体der(1)t(1;17) (q44;q24.3).结论 胎儿超声异常特点可能是1q44缺失和17q24.3q25.3重复的结果,其中,1q44微缺失是否对表型的产生起主导作用,需要进一步的研究验证.

abstractsObjective To analyze a fetus with abnormal sonographic features and correlated its genotype with phenotype.Methods G-banding analysis,single nucleotide polymorphism array (SNP array)and fluorescence in situ hybridization (FISH) were performed for the fetus.Karyotyping and FISH were also carried out for the parents.Results SNP array detected a 4.4 Mb deletion at 1q44 and a 10.4 Mb duplication at 17q24.3q25.3 in the fetus.Based on the results of SNP array and FISH analysis,the father was diagnosed with a cryptic t(1;17)(q44;q24.3) translocation.The fetus has inherited a der(1)t(1;17) (q44;q24.3) from its father.Conclusion The 1q44 deletion and 17q24.3q25.3 duplication may have contributed to the abnormal sonographic features presented by the fetus.