本文报告一个罕见的18号染色体嵌合体病例:50％46,XX 18p/50％46,XX,i(18q)。先证者是一个5岁女孩,5次妊娠第二次分娩出生。分娩时见38岁。母亲血型I(O),Rh+,核型46,XX。父亲37岁,血型I(O),Rh-,核型46,XY。这次妊娠第一周发生急性呼吸病毒感染,用磺胺二甲嘧啶治疗。产院检查时发现颅骨变形,斜眼,左侧髋骨先天脱位。 2.5岁时分析患者核型发现两种细胞系:一种是18号染色体短臂单体性(核型46, This article reports a rare case of chromosome 18 chimera: 50% 46, XX 18p / 50% 46, XX, i (18q). The proband is a 5-year-old girl who was born on her second childbirth of 5 pregnancies. See 38 years old during childbirth. Mother blood group I (O), Rh +, Karyotype 46, XX. Daughter 37 years old, blood group I (O), Rh-, karyotype 46, XY. Acute respiratory virus infection occurs in the first trimester of pregnancy and is treated with sulfamethazine. Birth examination revealed skull deformation, squint, left hip congenital dislocation. Analysis of patient karyotypes at age 2.5 Two cell lines were found: one was short arm monosomy on chromosome 18 (karyotype 46,