Chromosome 5q duplication syndrome. 5q+ syndrome. Trisomy 5q syndrome.
Incidence
Rare syndrome, sporadic.
Clinical Characteristics
Duplication of the long arm of chromosome 5 with a variable clinical picture consisting of psychomotor retardation and craniofacial, cardiovascular, musculoskeletal, and other anomalies. The phenotype varies with different karyotypes. Patients with dup(5)(q11-q22) have psychomotor retardation, muskuloskeletal abnormalities, facial anomalies, growth retardation, and thin tapering fingers; with (q22-q33) have microcephaly, growth retardation, brachydactyly, long flat philtrum, thin upper lip, downturned angles of the mouth, and low-set ears; (q31-qter), (q32-qter), and (q33-qter) have psychomotor and growth retardation, brachydactyly, microcephaly, and facial abnormalities.
Precipitants
None
Provocation Tests
None