Chromosome 2p duplication syndrome. Chromosome 2p plus syndrome. Trisomy 2p syndrome.
Incidence
Duplication of the short arm of chromosome 2 can occur de novo or as a familial condition.
Clinical Characteristics
Duplication of the short arm of chromosome 2 with psychomotor retardation, characteristic facies (prominent forehead, frontal upsweep of hair, hypertelorism, micrognathia, and nose and ear malformations), narrow palate, dolichostenomelia, finger and toe abnormalities, and genital anomalies. Less frequently occurring abnormalities include neural tube defects anencephaly, encephalocele, and spina bifida), bronchial and pulmonary hypoplasia, diaphragmatic hernia, neuroblastoma, a genital anomalies, and congenital heart defects.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Duplication of the short arm of chromosome 2