Chromosome 15 ring syndrome. Ring chromosome 15 syndrome
Incidence
Very rare syndrome. Sporadic.
Clinical Characteristics
A condition in which both ends of chromosome 15 have been lost (deletion) and the two broken ends have reunited to form a ring-shaped figure. Common clinical findings include growth retardation, triangular expressionless face, hypertelorism, slightly receding mandible, malformed ears, short neck, brachymesophalangy, hypogonadism, small hands and feet, mental retardation, and other disorders. The affected patients exhibit de novo hemizygous deletions of the distal subbands of the long arm of chromosome 15 (q26.3, q26.2, and/or q26.1), and some have deletion of one copy of the insulin-like growth hormone receptor gene (IGF1R).
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Chromosome 15 ring syndrome.