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. 2022 Nov 21;12(11):2887. doi: 10.3390/diagnostics12112887

Figure 1.

Figure 1

Pathogenic duplication of 22.5 Mb in 3p26.3p24.3 region detected by SNP-Array (green lines in “(A,B)” in a five-year-old patient, with delay of psycho-motor development, bilateral fronto-parietal lysencephaly, and pachygyria. SNP-Array methodology: the DNA sample isolated from peripheral blood was analyzed with the HumanCytoSNP-12 v2.1 Analysis BeadChip Kit (Illumina). The scanning was performed with the NextSeq550 equipment and the software related to the equipment (Illumina). Data analysis was performed with BlueFuse Multi 4.5 Software (32178) (Illumina), using the databases: UCSC Genome Browser, DECIPHER, OMIM, ISCA, DGV, ClinGen and ClinVar. The patient is a female child of healthy non-consanguineous parents. There is no family history of developmental delay. Molecular karyotype formula (according to ISCN 2016): arr[GRCh37]3p26.3p24.3(316417-22827129)x3,4q34.3q35.2(182338549-190880409)x1; “(C)”Schematic representation of genes localized in the duplicated region 3p26.3p24.3, located in the red rectangle on the schematized chromosome 3 (from UCSC browser). Each rectangle represents an OMIM gene, those colored in green are genes with known involvement in pathogenesis. The 22.5 Mb duplication detected in the 3p26.3p24.3 region contains 80 OMIM genes, many of them being candidate or associated with pathogenesis, such as the SETD5 gene (OMIM 615743, associated with intellectual disability, autosomal dominant AD 23, OMIM 615761), CRBN gene (OMIM 609262, associated with intellectual disability, autosomal recessive, AR, 2, OMIM 607417), CCDC174 gene (OMIM 616735, associated with Hypotonia, infantile syndrome, with psychomotor inhibition, autosomal recessive AR, OMIM 616816), BRPF1 gene (OMIM 602410, associated with Intellectual developmental disorder syndrome with dysmorphic facies and ptosis, AD, OMIM 61733), CHL1 and CNTN6, those being ASD candidate genes, playing an important role in language and cognitive development [1,2]. More other microduplications of comparable size, with (likely) pathogenic significance, were reported in clinical databases, such as ClinVar (Variation ID: 155700, 148876, 57977) and Decipher (ID patients: 400840, 292119) in case of patients with intelectual disability, MCM (such as: tetralogy of Fallot, abnormality of the genitourinary, digestive, and/or musculoscheletal system). Additionally, 3q26 microduplication syndrome is described in Orphanet database as a syndromic form associated with prenatal and postnatal growth inhibition, developmental delay, intellectual impairment, dysmorphic signs, and variable combination of congenital anomalies, including cardiovascular, genitourinary, and skeletal anomalies and spectrum of caudal malformations (ORPHA:96095).