Chromosome 9 inversion syndrome. Chromosome 9q duplication/chromosome 9p deletion syndrome. 9q+/9p minus syndrome.
Incidence
Very rare syndrome. Sporadic.
Clinical Characteristics
Mosaicism for a balanced translocation with partial duplication of the long arm of chromosome 9 and partial deletion of the short arm of chromosome 9 are associated with craniofacial dysmorphism, delayed psychomotor development camptodactyly, brain atrophy, and cardiovascular and intestinal abnormalities.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Mosaicism for a balanced translocation with partial duplication of the long arm of chromosome 9 and partial deletion of the short arm of chromosome 9.