Chromosome 17p duplication syndrome. 17p+ syndrome. Trisomy 17p.
Incidence
Very rare syndrome. Sporadic.
Clinical Characteristics
Duplication of the short arm of chromosome 17 with delayed psychomotor development, craniofacial abnormalities (narrow downslanting palpebral fissures, microcephaly, hypertelorism, and malformed ears), digital anomalies, and other congenital defects. Expression varies with the karyotype.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Duplication of the short arm of chromosome 17