母源性46,XY,der(3)t(3;18)(p26;q12)染色体非平衡易位的遗传学分析

Genetic analysis of maternal 46,XY,der(3)t(3;18)(p26;q12) unbalanced chromosomal translocation

目的 对一例出生10 d,临床表现为并指、面容异常、纳差、肌张力低下的患儿进行遗传学分析,探索患儿的遗传学病因。方法 应用全基因组单核苷酸多态性微阵列分析(SNP-array)及高分辨染色体分析技术对患儿进行遗传学检测,并对患儿及其父母进行外周血高分辨染色体核型分析验证患儿染色体异常的来源。结果 SNP-array分析结果显示患儿3号染色体断臂3p26.3发生2.26 Mb片段缺失、18号染色体长臂18q12.1q23发生47.27 Mb片段重复。高分辨染色体核型分析显示患儿母亲染色体核型分析结果为46,XX,t(3;18)(p26;q12),患儿父亲染色体核型结果为46,XY,inv(12)(p11.2q21),患儿染色体核型为46,XY,der(3)t(3;18)(p26;q12)mat。结论 患儿携带母源性der(3)t(3;18)(p26;q12)非平衡易位,患儿的表型与染色体缺失和重复片段的大小及位置密切相关;通过遗传学检测发现患儿的病因,并为该家庭提供下一胎生育指导。

Objective A newborn birth 10 days,the clinical manifestations are referred to as a result of abnormal face abnormalities,psychology,and low muscle tension,and the cause of genetics in children.Methods All gene group mononucleotide polymorphism microarray analysis(SNP-Array) techniques were genetically detected on children,and the patients and their parents were analyzed for peripheral blood high-resolution staining.Source of abnormal chromosome.Results The results of SNP-Array analysis showed 2.26 Mb fragment deletion of 3p26.3 and 47.27 Mb fragment occurred in 18q12.1q23.Nuclear type analysis showed the results of mother chromosomal nuclear type 46,XX,t(3;18)(p26;q12),the fat father chromosomal nucleus is 46,XY,inv(12)(p11.2q21),children with chromosome nucleus 46,XY,der(3)t(3;18)(p26;q12)mat.Conclusion Children carrying maternal der(3)t(3;18)(p26;q12) is unbalanced,the phenotype of the child is closely related to the lack of chromosome and the size and position of the repeating fragment;found through genetics The cause of children and provides next birth guidance for the family.