Table 1.
Common clinical features identified in individuals with central 22q11.2 duplications
| Details | Family 1 | Family 2 | Family 3 | Family 4 | Family 5 | Family 6 | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Case No. | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 |
| Sex | M | F | M | F | M | M | F | M | F | M | F | M | M |
| Age at last evaluation | 12 years 6 months | 10 years 9 months | 12 years 3 months | 6 years 6 months | 6 years 6 months | 16 years | 5 years 1 months | 7 years 11 months | 14 years | ||||
| Duplication size (Kb) | 730 | 730 | 730 | 120 | 120 | 120 | 120 | 400 | 400 | 400 | 400 | 400 | 400 |
| Duplication breakpoints | B to D | B to D | B to D | C to D | C to D | C to D | C to D | C to D | C to D | C to D | C to D | C to D | C to D |
| Location (hg19) | chr22:20,733,667‐21,462,353 | chr22:20,956,906‐21,075,537 | chr22:21,009,596‐21,462,353 | chr22:21,091,640‐21,462,353 | chr22:21,091,640‐21,462,353 | chr22:21,062,271‐21,462,353 | |||||||
| Other CNVs of possible significance | De novo 19p13.3 duplication | _ | _ | _ | _ | _ | _ | _ | _ | _ | _ | _ | _ |
| Inheritance | Paternal | Paternal | Unknown | Maternal | Maternal | Maternal | Unknown | Maternal | Unknown | Maternal | _ | Unknown | Unknown |
| Development delay and/or cognitive impairment | Severe global developmental delay, intellectual disability | Developmental delay, intellectual disability | _ | Severe intellectual disability, severe developmental delay, | Global developmental delay, moderate intellectual disability | Global developmental delay, mild Intellectual disability | _ | Speech delay | _ | Early speech and language delay, fine motor difficulties | _ | _ | Global developmental delay, borderline IQ age 4 years |
| Psychiatric/Behavior problems | ASD, motor stereotypies | ASD, anxiety | _ | Severe ASD, nonverbal at 12 years, self‐injury | ASD, moderate language impairment | ASD, moderate language impairment | _ | High functioning ASD | _ | Behavioral issues as prefers structure, anxiety with changes in routine (currently no formal diagnosis of ASD) | _ | Complex motor stereotypies with repetitive jumping, hand flapping, clenching of hands and face. Mood issues | ASD, variable motor stereotypies: hand movements, pacing, toe walking. Anxious, difficulties with social interaction |
| Palatal defects | _ | _ | _ | _ | _ | _ | _ | _ | _ | Unilateral cleft lip and submucous cleft palate | _ | _ | _ |
| Hearing impairment | _ | _ | _ | _ | _ | _ | _ | _ | _ | Conductive hearing loss | _ | _ | _ |
| Growth delay | _ | _ | _ | Short stature | Short stature | Short stature | Short stature | _ | _ | _ | _ | _ | _ |
| Macrocephaly | Relative macrocephaly (head circumference 98th percentile) | Relative macrocephaly (head circumference 98th percentile) | _ | _ | _ | _ | _ | _ | _ | _ | _ | _ | _ |
| Microcephaly | _ | _ | _ | _ | _ | _ | _ | _ | _ | _ | _ | _ | _ |
| Hypotonia | _ | _ | _ | _ | _ | _ | _ | _ | _ | _ | _ | _ | Hypotonia at 7 months of age |
| Seizures | _ | _ | _ | Epilepsy | _ | _ | _ | _ | _ | _ | _ | _ | _ |
| Heart defect | _ | _ | _ | _ | _ | _ | _ | _ | _ | _ | _ | _ | _ |
| Urogenital anomaly | _ | _ | _ | _ | _ | _ | _ | _ | _ | _ | _ | Macroscopic hematuria. Kidney ultrasound normal | _ |
| Dysmorphism | Tall forehead, posteriorly rotated prominent ears, slightly deep‐set eyes, upslanting palpebral fissures | Tall forehead, posteriorly rotated ears, deep‐set eyes | _ | _ | _ | _ | _ | Long luxuriant eyelashes, upslanting palpebral fissures | _ | Tall forehead, almond‐shaped eyes, long eyelashes, upslanting palpebral fissures | _ | _ | Tall forehead and prominent jaw |
| Hand/foot anomalies | _ | _ | _ | _ | _ | _ | _ | Long narrow hands and fingers, relatively long toes | _ | Broad fingers (average length) | _ | _ | _ |
| Brain Imaging | _ | _ | _ | Brain MRI with no significant anomalies identified | Neonatal ultrasound with no anomalies detected | Neonatal ultrasound with no anomalies detected | _ | _ | _ | _ | _ | Brain MRI with no anomalies identified | Head CT scan at 7 months of age with no anomalies detected |
| Other features | _ | _ | Asymptomatic | Obese | _ | Obese | Asymptomatic, obese | _ | Asymptomatic | _ | Asymptomatic | _ | Reduced dorsiflexion in both ankles |
A “‐” sign indicates features which were not present or not detected.