| | Rifai et al. [4] | Cocchella et al. [1] | Ferreira et al. [5] Patient 1 | Mencarelli et al. [6] | Patient 2 | Balasubramanian et al. [7] patient 2 | Patient 3 | Van Buggenhout et al. [3] Patient 3 | Balasubramanian et al. [7] Patient 6 | Van Buggenhout et al. [3] Patient 4 |
| Breakpoint | 176,637,788–202,728,505 | 181,278,257–185,623,055 | 178,121,127–194,943,948 | Approx 180,000,000–193,000,000 | 183,493,891–192,126,191 | 190,915,507–201,302,003 | 191,014,657–215,693,775 | Approx 193,000,000–208,000,000 | 195,531,681–199,625,499 | Approx 196,000,000–207,000,000 |
| Age | 16 Y | 25 Y | 8 Y 9 M | 13 Y | 36 Y | 5 Y | 6 m | 3 Y 8 M | 4 Y | 11 Y 11 M |
| Mental retardation/ developmental delay | Severe intellectual disability | Severe MR | Mild MR | Severe MR | LD | Mild-moderate MR | NS | Severe | NS | Severe |
| Craniofacial | Asymmetric, flat malar bones, high forehead, bitemporal constriction | Long | Large narrow forehead, midface hypoplasia | Long, high forehead | Limited jaw opening, hemifacial microsomia | High forehead | Small mouth | Asymmetry | Rectangular, prominent forehead | Small |
| Eyes | NS | Hypertelorism, downslanting | Dacryocystitis | Deep set | NS | Downward slanting, palpebral fissures | Bilateral cataracts, telecanthus, palpebral fissures | Dacryocystitis, coloboma | Significant for hyperopia of the right eye, esotropia of the right eye | Downward slanting palpebral fissures |
| Ears | NS | Retrorotated | NS | Dysmorphic right ear | NS | Mild unilateral HL | Minor external ear abnormalities, prelauricular tags | Frequent otis media | Recurring otis media | Dysplastic |
| Teeth | Oligodontia | NS | NS | Broad, overcrowded, abnormal | Normal | Crowded teeth | NS | Abnormal | Dental crowding | Abnormal adult teeth |
| Palate | Soft, bifid uvula | High | High and narrow | High | Normal | High | Cleft | High | Narrow and high arched | High |
| Micrognathia | NS | Yes | NS | Yes | NS | NS | Yes | NS | NS | NS |
| Skin/hair | Hair woolly, sparse. Skin thin almost lipoatroppic | Thick hair, normal skin | Thick and coarse skin, dry hair | Thick coarse hair, thick eyebrows | Soft and hyperextendable skin | Fine hair | NS | Thin, sparse hair | Eczema | Thin white hair |
| Cardiac | NS | NS | NS | NS | NS | NS | Membranous ventricular septal defect, small secundum atrial septal defect, small PDA, and severe right ventricular volume overload | Small VSD | Heart murmur | NS |
| Behaviour | NS | Aggressive | Aggressive and unpredictable humour, uncontrolled eating habits | Aggressive, hyperactivity, anxiety, self mutilation | OCD | None | NS | Mood change, hyperactive, autistic like behaviour | Autistic like features, hyperactivity | No behavioural problems |
| Speech | No active speech | No active speech | Active speech | No active speech | Normal/active speech | A few words | NS | Donald Duck speech | 10-word vocabulary | Donald Duck speech |
|
|