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Klinefelter综合征的早期诊断(附14例报告) 被引量:1

Clinical report of Klinefelter syndrome in 14 cases
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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,
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
关键词 睾丸发育不良 先天性 诊断 Klinefelter syndrome, Chromosome, Clinic
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