Hannes F, Vermeesch J R
Centre for Human Genetics, University Hospital, K.U. Leuven, Leuven, Belgium.
Cytogenet Genome Res. 2008;123(1-4):88-93. doi: 10.1159/000184695. Epub 2009 Mar 11.
The terminal deletion of the short arm of chromosome 4 causing the Wolf-Hirschhorn syndrome is one of the first pathogenic copy number variations (CNVs) ever described. Since this first discovery, a large number of 4p CNVs causing variable phenotypes have been described. Here, we present an overview on those benign and pathogenic visible and submicroscopic 4p imbalances. Interestingly, some CNVs can be, dependent on their copy number state, both benign and pathogenic. In addition, we show how the collection of both phenotypes and genotypes of 4p terminal deletions is leading towards the genetic dissection of the Wolf-Hirschhorn syndrome.
导致沃尔夫-赫希霍恩综合征的4号染色体短臂末端缺失是最早被描述的致病性拷贝数变异（CNV）之一。自首次发现以来，已描述了大量导致不同表型的4p CNV。在此，我们对那些良性和致病性的可见及亚微观4p失衡进行综述。有趣的是，一些CNV根据其拷贝数状态，既可以是良性的，也可以是致病性的。此外，我们展示了4p末端缺失的表型和基因型的收集如何引领对沃尔夫-赫希霍恩综合征的遗传学剖析。
