Klinefelter综合征的早期诊断(附14例报告)  

Clinical report of Klinefelter syndrome in 14 cases

作　　者：李新景[1] 张辉[1] 郁冰 

机构地区：[1]山西医科大学第一附属医院儿科,030001 [2]鞍山计划生育中心

出　　处：《中国优生与遗传杂志》1997年第2期51-52,共2页Chinese Journal of Birth Health & Heredity

摘　　要：本文总结了14例克氏综合征，最小2岁，最大38岁，表现型为男性，但阴茎短小，睾丸小，性成熟期不能产生精子，细胞核型以47，XXY为最多，占80％，嵌合型占10％，罕见核型占10％。产生机制是经细胞分裂过程中发生性染色体不分离所致，其原因有待进一步探索。口腔粘膜X染色质检查对早期诊断克氏综合征具有重要意义，强调对男性新生儿本病普查的必要性。Fourteen cases with Klinefelter syndrome were reported. Age were among 2 to 38 year-old.Although their phenotype were male, they had short penis, small testis with no sperm. The most karyotype is 47, XXY, to 80%: nichtype 10%,seldomtype 10%. The mechanisms of the disease is that productive cell occurred sex chromosomes not separated. There was an important significance for early diagnosis of Klinefelter syndrome, examination of X-chromatin on oral epithelial cell of patients. It was necessary to generally examine male neonate,

关 键 词：睾丸发育不良 先天性 诊断 

分 类 号：R697.220.4[医药卫生—泌尿科学]