Chromosome 3p duplication syndrome. 3p+ syndrome. Trisomy 3p syndrome.
Incidence
Rare syndrome. Several duplications are observed. Most reported cases have resulted from paternal or maternal balanced translocation.
Clinical Characteristics
Duplication of the short arm of chromosome 3 with severe delay in mental development, craniofacial dysmorphism, urogenital maldevelopment, and various occasional anomalies, including cardiac defects, cleft lip and palate, holoprosencephaly, dermatoglyphic findings, and other malformations. Nearly half of the affected infants die within the first 2 years of life.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Duplication of the short arm of chromosome 3