Table 1.
Patients described with CNV of 16q24.3 region involving ANKRD11 gene.
| References | 16q24.3 CNVs | Size | Position (hg19) | Dysmorphic features | Internal malformations | DD/ID | Other neuropsychiatric features | Short stature | Skeletal abnormalities |
|---|---|---|---|---|---|---|---|---|---|
| Willemsen et al. (11) | del | 378kb | 89.12–89.53 | Yes | CNS Skeletal Ocular | Moderate DD/ID | Seizures | p3-10 | Kyphoscoliosis |
| Willemsen et al. (11) | del | 265kb | 89.27–89.53 | Yes | CNS | Borderline DD/ID | Speech delay ASD | p10-25 | - |
| Lim et al. (12) | del | 240kb | 89.35-89.59 | Yes | Skeletal | Borderline DD/ID | Seizures, ADHD, Speech delay | <p3 | Delayed bone age, narrowing and elongation of iliac wings and body, small femoral heads, small distal tibial epiphyses, and tibiotalar slanting |
| Isrie et al. (13) | del | 221kb | 89.34-89.56 | Yes | Skeletal | Borderline DD/ID | ADHD, delayed speech and language development | <p3 | Clinodactyly, syndactyly |
| Isrie et al. (13) | del | 138kb | 89.33-89.47 | Yes | Skeletal | Borderline DD/ID | Seizures ADHD | <p3 | Short 4th and 5th metacarpals |
| Scarano et al. (14) | del | 140kb | 89.28–89.42 | Yes | Skeletal, renal, genital | DD/ID | Behavioral features | N | Delayed bone age, ribs abnormalities, joint stiffness, clinodactyly, short metacarpals |
| Scarano et al. (14) | del | 220kb | 89.33-89.55 | Yes | Skeletal, cardiac | DD/ID | Behavioral features | <p3 | Delayed bone age, ribs abnormalities, scoliosis/kyphosis, joint stiffness, clinodactyly |
| Scarano et al. (14) | del | 130kb | 89.42-89.55 | Yes | Skeletal | DD/ID | Behavioral features | N | Delayed bone age, ribs abnormalities, joint stiffness, clinodactyly |
| Khalifa et al. (15) | del | 197kb | 89.38-89.58 | Yes | Cardiac, genital, digestive skeletal | DD/ID | Febrile seizures | p10 | Delayed bone age, small hands with brachydactyly, partial syndactyly 2nd-3rd toes |
| Youngs et al. (16) | Del | 180kb | 89.39-89.57 | Yes | - | mild ID | ASD, ADHD, obsessive–compulsive disorder, anxiety, self-injury | <p3 | - |
| Spengler et al. (17) | del | 348kb | 89.37-89.60 | Yes | Skeletal | No | No | <p3 | Clinodactyly 5th finger |
| Novara et al. (18) | del | 340kb | 89.16-89.50 | Yes | Skeletal | ID | Stereotypies bruxism, hand-biting, sleep disorders | <p3 | - |
| Sacharow et al. (19) | del | 320 kb | 89.28-89.60 | Yes | Skeletal, cardiac, genital | ID | Speech delay | p50 | Clinodactyly 5th finger |
| Crippa et al. (20) | dup | 89 kb | 89.35-89.43 | Yes | Skeletal, cardiac, renal | moderate ID | <p3 | Short metacarpals | |
| Our patient | dup | 113kb | 89.54-89.6 | Yes | Skeletal, cardiac | DD/ID | ASD, seizures, speech delay | <p3 | Low bone mineral density, fracture |
Del, deletion; dup-duplication; CNV, copy number variants; DD/ID, developmental delay/intellectual disability; ADS, autism spectrum disorder; ADHD, Attention-Deficit/Hyperactivity Disorder; CNS, central nervous system; N, normal.