Table 3.
CNVs overlapping with known genomic disorders loci (a) and de novo CNVs (b).
| Cytoband | Coordinates min/max | length (bp) min/max | CN | Sample Sex | Inheritance | Genes | Freqa | Penetrance %11 | Clinical Diagnosisb | Other rare genic CNVs |
|---|---|---|---|---|---|---|---|---|---|---|
| a) CNVs Overlapping with Known Genomic Disorders | ||||||||||
| 1p36.32 | chr1:2473258-3118326 | 645069 | 1 | AB27 Male | De novo | 9 genes | 0 | 1p36 del (100% penetrance in DD/ASD/CM) | PDD | |
| 15q11.2 | chr15:22755185-23228712/ chr15:22383300-23668092 | 473528/1284793 | 3 | AB111 Male | Maternal | 10 genes | 4 (1TP, 2NP, 1 C) | 15q11.2 dup (1.8% penetrance for ASD)17 | PDD | |
| 16p13.11 | chr16:15493046-16301530/ chr16:15395596-16859425 | 808485/1463830 | 3 | AB35 Female | Paternal | 18 genes | 2 (1TP, 1 C) | 16p13.11 dup (8.4% penetrance in DD/ASD/CM) | PDD | (chr10:68065751-68180999)x1mat |
| 17q12 | chr17:34815551-36249430/ chr17:34461869-36455348 | 1433880/1993480 | 3 | AB164 Male | Maternal | 11 genes | 1 (TP) | 17q12 dup (17% penetrance in DD/ASD/CM) | PDD | (chr11:4387760-4409718)x3mat |
| 22q13.33 | chr22:50814075-51181759/ chr22:50764057-51304566 | 367684/540509 | 1 | AB133 Female | De novo | 19 genes | 0 | Phelan-McDermid del (100% penetrance in DD/ASD/CM) | ASD | (chrX:38490844-38624791)x3mat |
| b) Rare De Novo genic CNVs | ||||||||||
| 5p13.2 | chr5:35730729-35991299 | 260571 | 3 | AB161 Male | De novo | CAPSL, IL7R, SPEF2, UGT3A1 | 0 | PDD | (chr16:3010466-3032566)x1mat; (chr1:236850052-237167218)x3pat | |
| 13q34 | chr13:114323997-114475037 | 151041 | 1 | AB84 Male | De novo | FAM70B, GRK1, LOC100130386 | 0 | PDD | ||
aFrequency a in 363 controls (C) and 238 parents (P): TP: transmitting parent; NP: non-transmitting parent.
bPDD: pervasive developmental disorder according to the DSM-IV; ASD: autism spectrum disorder according to the DSM-5.