Chromosome 19 ring syndrome. Ring chromosome 19 syndrome.
Incidence
Some cases are familial but many are sporadic.
Clinical Characteristics
Chromosome 19 in which both ends have been lost (deletion) and the two broken ends have reunited to form a ring-shaped figure. The phenotype varies and ranges from a normal clinical picture in some patients to various combinations of microcephaly, mental retardation, and other anomalies in most infants without a well-defined genotype-karyotype correlation.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Chromosome 19 ring.