AI Article Synopsis
- Recent advancements in genome analysis, like array comparative genomic hybridization, have improved prenatal diagnosis of recurrent copy number variations (CNVs).
- Some CNVs, such as the duplication at the 2q13 locus, are linked to developmental and neuropsychiatric disorders but have low penetrance and can occur in healthy individuals.
- The study discusses an asymptomatic family with a 2q13 duplication, illustrating the complexities of genetic counseling for novel CNVs identified prenatally.
Article Abstract
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.
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| http://dx.doi.org/10.1016/j.ejmg.2020.103956 | DOI Listing |
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