Chromosome 10 ring syndrome. Ring chromosome 10 syndrome.
Incidence
Very rare syndrome. Sporadic.
Clinical Characteristics
A syndrome in which both ends of chromosome 10 have been lost (deletion) and the two broken ends have reunited to form a ring-shaped figure. Psychomotor retardation, craniofacial abnormalities (mainly microcephaly and eye and nose deformities), hypoplastic male genitalia, transverse palmar creases, and occasional heart anomalies are the usual abnormalities. The phenotype is related to the breakpoint and mosaicism resulting from the unstable nature of the ring at cell division.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Ring chromosome 10.