1例18号环状嵌合体的遗传学分析  

Genetic analysis of chimeric ring chromosome 18: one case report

作　　者：柴乐 杜荷香 耿丹 潘璠 CHAI Le;DU Hexiang;GENG Dan;PAN Fan(Taiyuan Jinyu Clinical Laboratory Co.,Ltd.,Taiyuan,Shanxi 030000,China)

机构地区：[1]太原金域临床检验所有限公司,山西太原030000

出　　处：《中国优生与遗传杂志》2022年第6期1006-1007,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的 通过对1例身材矮小、特殊面容、智力低下的患儿进行细胞遗传学检查,探究其临床表现与遗传学因素的关系,并分析其影响因素。方法 对患儿进行外周血G显带染色体核型分析和染色体微阵列芯片检测。结果 染色体核型分析结果为46,XX,r(18)(p11.3q23)[70]/46,XX,der(18)r(18;18)(p11.3q23;p11.3q23)[14]/45,XX,-18[6],染色体微阵列芯片检测结果显示18q22.3q23存在大小约7.799 Mb的拷贝数缺失。结论 本例患儿的临床表现主要与18号染色体长臂末端缺失及环状染色体的不稳定性有关。Objective Through cytogenetic examination of a child with short stature, special face and mental retardation, to explore the relationship between clinical manifestations and genetic factors, and analyze its influencing factors.Methods Peripheral blood G-band karyotype analysis and chromosomal microarray chip detection was perfxormed on the child. Results Peripheral blood karyotyping results were 46,XX,r(18)(p11.3q23)[70]/46,XX,der(18)r(18;18)(p11.3q23;p11.3q23)[14]/45,XX,-18[6], chromosomal microarray chip detection results showed 18q22.3q23 with a copy number deletion of approximately 7.799 Mb. Conclusion The clinical manifestations of the children in this case are mainly related to the loss of the long arm end of chromosome 18 and the instability of the ring chromosome.

关 键 词：染色体核型分析 微阵列 18号环状染色体 嵌合体 

分 类 号：R725.9[医药卫生—儿科]