Stellingwerff Harm-Jan, van Hagen Johanna M, ten Kate Leo P
Department of Clinical Genetics and Human Genetics, VU University Medical Center, Amsterdam, The Netherlands.
Eur J Hum Genet. 2006 Sep;14(9):1054-7. doi: 10.1038/sj.ejhg.5201660. Epub 2006 May 31.
According to several authors cranio-cerebello-cardiac (3C) syndrome is an autosomal recessive disorder. This opinion was based on pedigree inspection without formal segregation analysis. Recently, the assumption of autosomal recessive inheritance was challenged by the observation of overlapping features with 6p deletions. We therefore performed segregation analysis by means of methods described by Li and Mantel, Davie and Lange on 27 pedigrees selected from literature. The results of all three methods are consistent with autosomal recessive inheritance but their broad confidence intervals leave room for other explanations as well. Reporting of 3C cases without evaluation of 6p copy number should be discouraged from now on.
根据几位作者的观点，颅-小脑-心脏（3C）综合征是一种常染色体隐性疾病。这一观点基于系谱检查，而非正式的分离分析。最近，由于观察到与6p缺失存在重叠特征，常染色体隐性遗传的假设受到了挑战。因此，我们采用李和曼特尔、戴维和兰格所描述的方法，对从文献中选取的27个家系进行了分离分析。所有三种方法的结果均与常染色体隐性遗传相符，但它们宽泛的置信区间也为其他解释留下了空间。从现在起，应避免报告未评估6p拷贝数的3C病例。
