Chromosome 8p inverted duplication syndrome. Trisomy 8p due to inverted duplication.
Incidence
Very rare syndrome. Sporadic.
Clinical Characteristics
Inverted duplication of the short arm of chromosome 8. Orofacial anomalies, consisting of a prominent forehead, highly arched palate, large mouth with a thin upper lip, malformed ears, broad nasal bridge, occur in association with mental retardation, skeletal abnormalities, and joint laxity. Various dermatologic, cardiac, ophthalmologic, and other abnormalities may occur. Phenotypic expression is determined by different breakpoints.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Inverted duplication of the short arm of chromosome 8.