ClinVar

Description

This CNV is 35 kb and 17 kb duplication of Xq28 on chromosome X, (seq[GRCh37]dup(X)(q28); chr9:g.((153575641_ 153610949)_(153642662_ 153645284)dup), which is inherited. The breakpoints are uncertain due to current technological limitations. This CNV constitutes a duplication encompassing five protein coding genes, including FLNA, EMD, DNASE1L1, RPL10, and TAZ, and is in the region of the well-described Xq28 microduplication syndrome, though the causative genes associated with this microduplication syndrome are not found in this duplication (Vandewalle et al. 2009; Ballout et al. 2020). Patients with duplications similar in size and genomic content to this duplication have not been reported in the peer-reviewed literature. Several patients with partially overlapping duplications are reported, with phenotypes including global intellectual disability, periventricular nodular heterotopia, pseudo-obstruction, malrotation, dilated bowels, seizures, non-ambulation, delayed speech, psychomotor delay, poor coordination, dysmorphic features, microcephaly, cardiac abnormalities, behavioral issues, and thrombocytopenia (Madrigal et al. 2007; Clayton-Smith et al. 2009; Firth et al. 2009; Kong et al. 2021). Based on the available evidence, this CNV is classified as a variant of uncertain significance.