1号染色体长臂部分三体综合征的array-CGH技术检测
摘要
1号染色体长臂部分三体综合征(三体征)是一种罕见的染色体异常,多数情况下是由于一方平衡易位的亲代的不平衡遗传,或者是新发的易位、重复或插入所产生。由于涉及的重复片段的大小和区段的差异,且常同时有其他染色体片段的单体,使得1号染色体部分三体征的临床表型变得复杂多样,表犁与基因型之间的对应关系难以确定。
出处
《中华妇产科杂志》
CAS
CSCD
北大核心
2013年第9期698-700,共3页
Chinese Journal of Obstetrics and Gynecology
基金
江苏省医学创新闭队与领军人才(LJ201109)
江苏省卫生厅科技项目(H201068)
江苏省临床医学科技等项(SBL201230217)
南京市医学科技发展项目(YKK10043)
南京医科大学科技发展基金重点项目(2011NJMU214)
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