Chromosome 2q duplication syndrome. 2q+ syndrome. Trisomy 2q syndrome.
Incidence
Rare syndrome, sporadic.
Clinical Characteristics
Duplication of the long arm of chromosome 2 with psychomotor retardation and multiple anomalies consisting of unusual facial appearance, clinodactyly, short neck, short toenails, congenital heart defects, anomalies of the genitourinary system, and other abnormalities. Most cases involve duplication of several bands. The phenotype is usually directly related to the length of the involved segment. Most patients die in infancy but some may survive into childhood.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Duplication of the long arm of chromosome 2.