Table 1.
Phenotypic comparison of individuals with 2q23.1 deletions and MBD5-specific disruptions and Individuals II-1, II-4, and II-5 of this report
| Common features | 2q23.1 deletions: % frequency | MBD5-specific disruption: % frequency | Current report | Frequency | ||
|---|---|---|---|---|---|---|
| Individual II-1 | Individual II-4 | Individual II-5 | ||||
| Neurological and/or behavioral | ||||||
| Developmental delay | 100 | 100 | Mild | + | + | 3/3 |
| Motor delay | 100 | 100 | Moderate | + | + | 3/3 |
| Language impairment | 100 | 71 | Mild | + | Severe | 3/3 |
| Intellectual disability | NK | NK | Apparent | + | Apparent | 3/3 |
| Ataxia | 71 | 0 | − | − | − | 0/3 |
| Infantile hypotonia | 93 | 75 | − | − | Spastic diplegia of lower limbs | 1/3 |
| Infantile feeding difficulties | 100 | 67 | − | − | Reflux until 4 yr old | 1/3 |
| Seizures | 82 | 86 | + | − | + | 2/3 |
| Behavioral problems | 100 | 100 | Since teenage years | Severe | Mild | 3/3 |
| Sleep disturbances | 73 | 50 | − | − | − | 0/3 |
| Short attention span | 100 | 100 | + | + | + | 3/3 |
| Self-injurious behavior | 61 | 50 | − | + | + | 2/3 |
| Stereotypic repetitive behavior | 88 | 60 | + | + | + | 3/3 |
| Aggression | 100 | 50 | + | + | − | 2/3 |
| Hyperphagia | 78 | 0 | − | − | − | 0/3 |
| Autistic-like symptoms | 100 | 100 | + | − | + | 2/3 |
| Anti-epileptic drugs (AEDs) | ||||||
| Current therapy | NK | NK | Levetiracetam (1250 mg twice daily), valproate (1200 mg daily) | NA | Sodium valproate (500 mg twice daily) | 2/3 |
| Previous therapies | NK | NK | − | NA | Levetiracetam, lacosamide | 1/3 |
| Growth abnormalities | ||||||
| Postnatal growth retardation | 91 | 40 | − | − | − | 0/3 |
| Short stature | 86 | 40 | third centile | 25th centile | third centile | 2/3 |
| Craniofacial abnormalities | ||||||
| Craniofacial manifestations | 100 | 67 | + | + | + | 3/3 |
| Tracheo-esophagealfistula | + | − | − | 1/3 | ||
| Microcephaly | 90 | 0 | − | − | − | 0/3 |
| Macrocephaly | − | − | + | + | + | 3/3 |
| Brachycephaly | 36 | 0 | + | + | + | 3/3 |
| Broad forehead | 88 | 40 | − | − | − | 0/3 |
| Narrow bitemporal diameter | NK | NK | + | + | + | 3/3 |
| Synophrys | 47 | 20 | − | − | − | 0/3 |
| Thick/arched eyebrows | 75 | 100 | + | + | + | 3/3 |
| Eye abnormalities | 73 | 60 | + | + | + | 3/3 |
| Closely spaced eyes | 33 | 0 | − | − | − | 0/3 |
| Narrow palpebral fissures | NK | NK | + | + | + | 3/3 |
| Midface retrusion (hypoplasia) | 50 | 17 | Mild | − | Mild | 2/3 |
| Nasal abnormalities | 100 | 100 | − | − | + | 1/3 |
| Outer ear abnormalities | 88 | 20 | + | + | + | 3/3 |
| Wide mouth | 80 | 0 | Small mouth | Small mouth | Small mouth | 0/3 |
| Open mouth | 90 | 33 | Mild | − | Mild | 2/3 |
| Thin upper lip | 7 | 100 | + | + | + | 3/3 |
| Tented upper lip | 65 | 20 | − | − | − | 0/3 |
| Thick or everted lower lip | 67 | 33 | − | − | − | 0/3 |
| Downturned corners of mouth | 72 | 0 | − | − | − | 0/3 |
| Dental abnormalities | 52 | 50 | − | − | − | 0/3 |
| Widely spaced teeth | 47 | 50 | − | − | − | 0/3 |
| Large tongue, macroglossia | 19 | 0 | − | − | − | 0/3 |
| Micrognathia/retrognathia | 60 | 60 | + | + | − | 2/3 |
| Skeletal abnormalities | ||||||
| Hand/foot anomalies | 96 | 67 | + | + | + | 3/3 |
| Small hands and feet | 75 | 20 | − | − | − | 0/3 |
| Clinodactyly, fifth finger | 68 | 20 | + | + | − | 2/3 |
| Brachydactyly | 41 | 0 | + | + | + | 3/3 |
| Short fifth digit of hands/feet | 41 | 0 | + | − | − | 1/3 |
| Sandal gap | 25 | 50 | + | + | + | 3/3 |
| Other abnormalities | ||||||
| Cardiovascular abnormalities | 11 | 0 | − | − | − | 0/3 |
| Urogenital abnormalities | 29 | 0 | − | − | − | 0/3 |
| Constipation | 90 | 100 | − | − | + | 1/3 |
| Localized hirsutism | 22 | 0 | Generalized hirsutism | − | Generalized hirsutism | 0/3 |
| Bipolar disorder | + | + | − | + | − | 1/3 |
| Menarche | NK | NK | NA | 15 yr | NA | |
| Developmental regression | + | + | + | − | + | 2/3 |
| Behavioral regression | + | + | + | − | + | 2/3 |
Adapted from Table 1, Talkowski et al. (2011).
(NK) Not known, (NA) not applicable, (+) present, (−) not present.