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

ASD autism spectrum disorder, D dysmorphisms, DD developmental delay, ID intellectual disability, E epilepsy, M malformations

^atechnique and resolution most commonly used in the sample of our study