van den Bree Marianne B M, Miller Gregory, Mansell Elizabeth, Thapar Anita, Flinter Frances, Owen Michael J
Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, UK.
Eur J Med Genet. 2013 Aug;56(8):439-41. doi: 10.1016/j.ejmg.2013.05.001. Epub 2013 May 22.
With advances in laboratory technology, an increasing number of potentially pathogenic CNVs is recognised. The phenotypic effects of some CNVs are well characterised, however, it remains unclear how much information reaches the parents of affected children and by what route. The 22q11.2 deletion syndrome (del22q11.2) is caused by the deletion of approximately 40 genes from the long arm of chromosome 22 and was first described in 1955 [1]. Our study reports the extent to which parents of an affected child are aware of the various manifestation of the condition and describes how they first learned about these potential problems.
随着实验室技术的进步，人们认识到越来越多潜在致病性的拷贝数变异（CNV）。一些CNV的表型效应已得到充分表征，然而，尚不清楚有多少信息传达给了患病儿童的父母以及通过何种途径传达。22q11.2缺失综合征（del22q11.2）是由22号染色体长臂上约40个基因的缺失引起的，于1955年首次被描述[1]。我们的研究报告了患病儿童的父母对该疾病各种表现的知晓程度，并描述了他们最初是如何了解到这些潜在问题的。
