Table 5 Partial review of literature on detection of phenotypic factors related to pathogenic CNVs in patients with NDD and/or MCA
References | N° pt | Main Phenotype | Technique | Detection rate pathogenic CNVs | Clinical variables associated to pathogenic CNVs | Independent predictors of pathogenic CNVs |
|---|---|---|---|---|---|---|
Caballero Pérez et al. [15] | 80 | DD, ID | – | 27.5% | - Positive family history for DD/ID - Malformations - > n° 3 dysmorphisms - Hypotonia | – |
Cappuccio et al. [14] | 214 | ID, ASD, M | Oligo (500Kb e 50-75Kb) | 30% | - ASD - Positive family history for ID/ASD/MCA | - ID - Positive family history for ID - cutaneous dyschromia |
Preiksaitiene et al. [17] | 211 | DD, ID | Oligo 44 K, 400 K, 105 K SNP 300 K, 700 K (−) | 13.7% | - Cerebral malformations (CC) - Hydrocephalus - Dysmorphisms (down slanting palpebral fissures, ears, micrognathia) - Brachydactyly -Umbilical hernia - “coffee and milk” spots | - Congenital anomalies of corpus callosus - Ear dysmorphisms - Brachydactyly |
Caramaschi et al. [18] | 116 | DD, ID + E/ M/D | Oligo 44 K (−) | 23.3% | - Early onset symptoms (< 1 y) - Dysmorphisms - Malformations | - Dysmorphisms - Malformations |
D’Arrigo et al. [16] | 329 | DD, ID | Oligo 4x180K (40 Kb) | 16% | - Positive family history for DD/ID - IUGR - Face Dysmorphisms | - Positive family history for DD/ID - IUGR - Facies Dysmorphisms |
Shoukier et al. [20] | 342 | DD, ID, M | Oligo 244 K 4x180K | 13.2% | - Congenital anomalies (heart) | – |
Roselló et al. [19] | 246 | DD, ID + M, D | BAC (0.5–1 Mb) Oligo 44 K (50–150 Kb) | 29.7% | - Somatic overgrowth - Dysmorphisms (low set ears, hypertelorism, II-V finger anomalies) - Genital anomalies - VSD | – |
Our study | 339 | DD, ID, ASD, M, D | Oligo 6x80K (100 Kb)a | 20.6% | - DD/ID - Prematurity, IUGR - Hypotonia - Congenital heart anomalies - Cerebral malformations - Face and hand dysmorphisms | - Prematurity - VSD - Dysmorphisms |