摘要目的 探讨猫叫综合征临床及细胞遗传学特征.方法 取患儿静脉血做淋巴细胞培养,采用OLYMPUS染色体分析系统进行配对、图像分析.结果 两例患儿外周血染色体核型分别为46,XY,del(5) (p13)和46,XX,del(5) (p14).本文两例猫叫综合征临床表现均有小头圆脸,小下颌,鼻梁宽,特殊面容,哭闹不止,哭声细小如猫叫,严重智力低下和生长发育迟缓.结论 经细胞遗传学分析表明两例患儿均有1条5号染色体短臂末端发生大段缺失.

abstractsObjective To investigate the clinical and genetic characteristics of cat cry syndrome.Methods Patients' venous blood was taken to do lymphocyte culture, and OLYMPUS chromosome system was used to perform paired and image analysis.Results The peripheral blood karyotype of the two cases was 46, XY, del (5) (p13) and 46, XX, del (5) (p14).They manifested small head round face, small jaw, wide nose, a special face, excessive crying, crying in sound like a cat, severe mental retardation and growth retardation.Conclusion Cytogenetic analysis of the two cases of children with cat cry syndrome reveals that their is a major segment missing at the end of a short arm of the chromosome 5.