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22 q1 1缺失是一种常见的微小缺失综合征 ,具有极其易变的表型 ,除了诸如 Shprintzen腭 -心 -面综合征或 Di Gorge综合征这些典型表现外 ,2 2 q1 1缺失综合征可能与一些独特的可能偶然相关的异常相联系 ,这些异常扩大了它的表现型并使它的识别复杂化。这里作者报道了具有缺失和
The 22 q1 1 deletion is a common form of microdeletion syndrome with an extremely variable phenotype. In addition to the typical manifestations such as Shprintzen palatal-cardio-facial syndrome or Di Gorge syndrome, the 2 2 q1 1 deletion syndrome may Associated with unique and potentially accidental anomalies, these anomalies expand its phenotype and complicate its identification. Here the author has reported the absence and