伴染色体异常的伊藤型黑色素过少症

来源 :国外医学(儿科学分册) | 被引量 : 0次 | 上传用户:jia1987_LOVE
下载到本地 , 更方便阅读
声明 : 本文档内容版权归属内容提供方 , 如果您对本文有版权争议 , 可与客服联系进行内容授权或下架
论文部分内容阅读
1951年伊藤首次记载了无色素性色素失禁症(IPA)。其后,报告了80多例,本病除有皮肤症状外,还可并发各种异常,特别是中枢神经系统异常。口前,认为该症是神经皮肤综合征之一。自1973年Jelinek提出IPA名称不合理以来,国外已广泛应用伊藤型黑色素过少症(HI)这一病名,本病有性别差异,女性多发(约2.5倍),疑为常染色体显性遗传型疾病。 1985年首次报告伴有染色体异常的HI,进一步又报告了淋巴细胞的染色体正常,皮肤成纤维细胞染 In 1951, Ito first recorded an achromatic pigment incontinence (IPA). Since then, more than 80 cases have been reported. In addition to the skin symptoms, this disease can be complicated by various abnormalities, especially the central nervous system. Before the mouth, that the disease is one of the neurological skin syndrome. Since Jelinek proposed that the IPA name was unreasonable in 1973, the disease name of Ito-type melanopsin (HI) has been widely used in foreign countries. The disease has sex difference and multiple women (about 2.5 times), which is suspected to be autosomal dominant disease. The first report of HI associated with chromosomal abnormalities in 1985 further reported chromosomal normality of lymphocytes, dermal fibroblast staining
其他文献
期刊
三年级是习作起步的关键,许多学生在习作中不会运用平时积累的语言材料,只能流水账式写作。从“博彩,积累新词句——灵活,运用新词句——创新,评价新词句”三个维度对促进学
期刊
期刊
期刊
期刊
期刊
期刊
全面分析了现有立式冲击破碎机存在的振动问题,并从转子动力学角度入手,提出降低立式冲击破碎机振动噪声,延长轴承使用寿命的新技术,即在立式冲击破碎机上采用钢缆弹簧支承装
期刊