Chromosome 17q duplication syndrome. 17q+ syndrome. Trisomy 17q.
Incidence
Very rare syndrome. Sporadic.
Clinical Characteristics
Duplication of the long arm of chromosome 17, involving different bands of the distal portion, with a relatively constant phenotypic expression which consists mainly of psychomotor retardation, characteristic asymmetric facies, limb deformities, congenital heart anomaly, and other defects.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Duplication of the long arm of chromosome 17.