Chromosome 8 ring
Incidence
Very rare syndrome. Sporadic.
Clinical Characteristics
This chromosomal abnormality is poorly described in the literature. It is a malformative syndrome. It is an anomaly in which two ends of chromosome 8 have been lost (deletion) and the two broken ends have reunited to form a ring-shaped figure. The syndrome is rare and is characterized mainly by mental deficiency, facial abnormalities, uro-genital deformities, and other variable defects.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Chromosome 8 ring.