ClinVar

Description

This CNV is an 8.4 Mb deletion of 3p26.3-26.1, on chromosome 3, (seq[GRCh37]del(3)( p26.3p26.1);chr3:g.60001_8472742del), which is inherited. The CNV constitutes a loss encompassing 30 genes and overlaps the well-described 3p deletion syndrome region. Individuals described in the literature with characteristic features of 3p deletion syndrome typically have larger terminal deletions of 3p and include genes in 3p25.3 (Malmgren et al. 2007; Shuib et al. 2009; Kuechler et al. 2015). Several individuals have been described with deletions encompassed by this CNV, including two probands that have features typical of 3p deletion syndrome (Fernandez et al. 2008; Pohjola et al. 2010) and several individuals with very mild abnormalities or no clinical features (Takagishi et al. 2006; Shuib et al. 2009). There are several individuals with de novo 3p26.1-pter deletions in the DECIPHER database that have clinical features of 3p deletion syndrome, including dysmorphic facial features, clinodactyly, intellectual disability, hypotonia, microcephaly, short stature, and telecanthus (Firth et al. 2009). This CNV is absent in controls. Overlapping CNVs can be inherited from a mildly affected or asymptomatic parent, and there is wide variability in clinical features, even within families (Takagishi et al. 2006; Pohjola et al. 2010; Cuoco et al. 2011). Based on the collective evidence, this CNV is classified as pathogenic.