Adams Darius J, Clark David A
Atlantic Health System, Morristown, NJ, USA; Albany Medical Center, Albany, NY, USA.
Albany Medical Center, Albany, NY, USA.
Pediatr Clin North Am. 2015 Apr;62(2):411-26. doi: 10.1016/j.pcl.2014.11.005. Epub 2015 Jan 22.
Cytogenetic anomalies should be considered in individuals with multiple congenital anomalies. DNA methylation analysis is the most sensitive initial test in evaluating for Prader-Willi and Angelman syndromes. The timely identification of cytogenetic anomalies allows for prompt initiation of early intervention services to maximize the potential of every individual as they grow older. Although many of these conditions are rare, keeping them in mind can have a profound impact on the clinical course of affected individuals. This article reviews some of the more common genetic syndromes.
对于患有多种先天性异常的个体，应考虑细胞遗传学异常。DNA甲基化分析是评估普拉德-威利综合征和安吉尔曼综合征最敏感的初始检测方法。及时识别细胞遗传学异常有助于尽早启动早期干预服务，以便随着个体年龄增长最大限度地发挥其潜力。尽管这些病症大多罕见，但牢记它们会对受影响个体的临床病程产生深远影响。本文综述了一些较为常见的遗传综合征。
