Table 4.
CNVs Subclassified VOUS as potentially pathogenic VOUS.
| Case | Type | Microarray Nomenclature | Size (Kbp) | N° of Genes | N° of Genes in OMIM | Important Genes | Phenotype | Gender/Notes |
|---|---|---|---|---|---|---|---|---|
| #180 | Del | arr[hg19] 16p13.3(6,243,228-6,835,898)x1 | 593 | 1 | 1 | RBFOX1 | DD, Hypothyroidism | M/− |
| #223 | Dup | arr[hg19] 15q24.1(72,838,805-73,581,757)x3 | 743 | 8 | 4 | BBS4 | Short stature, IUGR, DD, MID, FD, dolichocephaly, high-arched palate, microtia, breast hypertelorism and constipation | M/*3V |
| #223 | Dup | arr[hg19] 3p26.3(255,645-1,510,822)x3 | 1.255 | 2 | 2 | CTN6, CHL1 | Short stature, IUGR, DD, MID, FD, dolichocephaly, high-arched palate, microtia, breast hypertelorism and constipation | M/*3V |
| #223 | Dup | arr[hg19] 6q25.3(156,488,875-158,534,725)x3 | 2.045 | 9 | 4 | SNX9, ARID1B | Short stature, IUGR, DD, MID, FD, dolichocephaly, high-arched palate, microtia, breast hypertelorism and constipation | M/*3V |
| #384 | Del | arr[hg19] 16p13.3(7,108,169-7,225,285)x1 | 117 | 1 | 1 | RBFOX1 | Mot Dif, Chronic Encephalopathy and spastic quadriparesis | M/− |
| #444 | Del | arr[hg19] 16p13.3(6,644,079-6,675,606)x1 | 31 | 1 | 1 | RBFOX1 | DD and ASD | M/− |
Variants of unknown significance with potential pathogenicity, found in the cohort, with the number of genes present in the region, listing the most relevant genes and phenotypes for each individual. Dup = Duplication, Del = Deletion, IUGR = Intrauterine growth restriction, DD = Developmental Delay, MID = Mild Intellectual Disability, FD = Facial Dysmorphisms, Mot Dif = Motor Difficulty, ASD = Autism spectrum disorder, F = Female, M = Male. *3 V = Patients with 3 VOUS (CNV).