In recent years, the introduction of novel genome analysis technologies (such as array comparative genomic hybridization) has enabled the prenatal diagnosis of various recurrent copy number variations (CNVs). Some of these CNVs have been linked to a greater susceptibility of developmental and neuropsychiatric disorders; for example, recurrent duplication at the 2q13 locus is associated with developmental delay, dysmorphism and intellectual disability. However, this CNV has low penetrance and variable clinical expressivity. It also can be observed in healthy controls and can be transmitted by unaffected parents, making genetic counseling especially challenging. Here, we report on the inheritance of a 2q13 duplication in an asymptomatic family; the case highlights the role of the family survey in genetic counseling with regard to novel CNVs diagnosed before birth.

近年来，新型基因组分析技术（例如阵列比较基因组杂交）的引入使得能够对各种复发拷贝数变异（CNV）进行产前诊断。其中一些CNV与发展性和神经精神疾病的易感性有关。例如，在2q13位点的反复复制与发育迟缓，畸形和智力残疾有关。但是，这种CNV的渗透率低，临床表现力也不同。它也可以在健康对照中观察到，并且可以通过未患病的父母传播，这使得遗传咨询特别具有挑战性。在这里，我们报告无症状家庭中2q13重复基因的遗传；