Chromosome 16p duplication syndrome. 16p+ syndrome. Trisomy 16p.
Incidence
Very rare syndrome. Sporadic.
Clinical Characteristics
Duplication of the short arm of chromosome 16 with severe psychomotor delay, rounded face, sparse hair, malformed ears, hypertelorism, cleft palate, a thin upper lip, and renal dysgenesis. The severity of expression varies with the type of duplication. Spontaneous abortion usually takes place in severe cases and about 50% die in infancy.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Duplication of the short arm of chromosome 16.