Chromosome 12 ring syndrome. Ring chromosome 12.
Incidence
Very rare syndrome. Sporadic.
Clinical Characteristics
An abnormality in which both ends of a chromosome have been lost (deletion) and the two broken ends reunited to form a ring-shaped figure. Abnormalities include short stature, microcephaly, mental deficiency, characteristic facies, highly arched palate, clinodactyly, and other defects.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Ring chromosome 12.