Table 1.
Clinical findings in our five subjects with ring chromosome 22
| Clinical findings | Subject 1 | Subject 2 | Subject 3 | Subject 4 | Subject 5 |
|---|---|---|---|---|---|
| Age/sex | 12y/M | 35y/M | 7y/F | 8y/M | 16y/M |
| Karyotype | 46,XY,r(22) (p11.2; q13) all lymphocytes studied showed r (22) | 46,XY,r(22) (p11.2; q13) 80% of lymphocytes studied showed r (22) | 46,XX,r(22) all lymphocytes studied showed r (22) | 46,XY,r(22) | 46,XY,r(22) (p12;q13) all lymphocytes studied showed r (22) |
| Mental retardation | + | + | + | + | + |
| Delayed motor development | − | + | + | − | + |
| Muscular hypotonia | + | + | + | − | − |
| Large ears | + | + | + | + | + |
| Epicanthal folds | + | − | − | − | − |
| Mood disorder | + | + | − | − | − |
| Lack of speech development | + | + | − | + | + |
| Full eyebrows | + | + | + | + | + |
| Microcephaly | − | − | − | − | − |
| Ataxia | − | + | − | − | + |
| Seizures | + | − | − | − | + |
| High–arched palate | − | + | − | − | − |
| Syndactyly of toes 2–3 | − | − | − | − | − |
| Flat nasal bridge | − | − | − | − | − |
| Hypertelorism | − | − | − | − | − |
| Growth retardation | − | + | − | − | − |
| Other | regression of speech; cerebellar atrophy; hydrocele | aggression; hyper–activity; height <3rd centile; no brain imaging performed | dysplastic nails; normal IgA levels; normal MRI | no brain imaging performed | mental regression; 3–4 finger syndactyly; hydrocele; cryptorchidism; cerebral and cerebellar atrophy; distal neuropathy (nerve conduction/electromyography studies showed chronic neuro– myopathic changes); low arylsulfatase A levels; IgA immune deficiency. |