一例6q部分三体1q部分单体患儿的分子细胞遗传学分析  

Cytogenetic and molecular characterization of a patient with partial 6q trisomy and lq monosomy

作　　者：秦凤金[1] 路晓燕[1] 冯亚佩[1] 唐培红[1] 牛刚[1] 李樊 张建海[1] 

机构地区：[1]胜利油田中心医院妇产科,山东东营257034 [2]北京贝瑞和康生物技术有限责任公司,100015

出　　处：《中华医学遗传学杂志》2016年第2期231-234,共4页Chinese Journal of Medical Genetics

摘　　要：目的确定1例多发畸形患儿的核型，探讨二代测序技术在其分子遗传学诊断中的应用。方法应用G显带对患儿及其父母进行核型分析，进一步采用二代测序技术对三者进行测序分析，确定其异常染色体片段的大小及来源，并用Mate-pair及PCR确定其是否来源于父母。结果G显带染色体分析显示患儿核型为46，XX，add（1）（q44）dn，其父母核型正常；二代测序结果显示患儿存在6q24．3-q27三体，并将断裂位点定位于6q24．3，此外还发现患儿1号染色体存在一约2．5Mb的微缺失，其父母二代测序结果正常；Mate-pair及PCR分析提示上述部分三体为新发畸变。结论患儿的异常表型可能与6q部分三体有关。与传统的细胞遗传学分析方法相比，二代测序具有高分辨率和高精确性的优点。Objective To analyze a girl with moderate mental retardation and speech and language disorders with cytogenetics technique and next-generation sequencing （NGS）. Methods G-banding chromosome analysis was used to ascertain the karyotype of the child and her parents, and NGS was used for determining the size and origin of the abnormal chromosome fragment. Mate-pair and PCR were used to determine its parental origin. Results The karyotype of the child was determined to be 46,XX, add（l） （q44） dn, while her parents were both normal. NGS revealed that the child has harbored a partial trisomy of 6q24.3-q27, and the breakpoint was mapped to at 6q24.3q27. In addition, a 2.5 Mb microdeletion at lq44 was found in the patient. Conclusion No recognizable phenotype was associated with lq44 deletion. The abnormal phenotypes presented by the child may be attributed to the 6q24.3-q27 triplication. Compared with conventional cytogenetic analysis, NGS has a much higher resolution and great accuracy.

关 键 词：6q部分三体 二代测序技术 智力低下 语言障碍 

分 类 号：R725.9[医药卫生—儿科] R440[医药卫生—临床医学]