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目的分析和探讨73例Klinefelter综合征的临床及细胞遗传学分析。方法外周血淋巴细胞培养染色体核型分析。结果 73例Klinefelter综合征中,典型Klinefelter综合征67例,占91.8%;伴有其它染色体异常3例,占4.1%;嵌合型2例,占2.7%;超X型1例,占1.4%。除47,XXY嵌合比例较少的1例外,均有小睾、无精子症状。结论典型Klinefelter综合征为主要类型,小睾、无精子为主要临床表现。
Objective To analyze and discuss the clinical and cytogenetic analysis of 73 Klinefelter syndromes. Methods Chromatin karyotype analysis of peripheral blood lymphocytes. Results Among 73 cases of Klinefelter’s syndrome, 67 cases were typical Klinefelter’s syndrome (91.8%), 3 cases were other chromosomal abnormalities (4.1%), 2 cases were chimerism (2.7%), 1 case was super-X (1.4% . In addition to 47, XXY chimerism less than one exception, have small testicles, no sperm symptoms. Conclusion The typical Klinefelter syndrome is the main type, small testa, no sperm as the main clinical manifestations.