Chromosome 1p duplication syndrome. 1p+ syndrome. Trisomy 1p syndrome
Incidence
Some cases are familial.
Clinical Characteristics
Duplication of the long arm of chromosome 1 with growth and mental deficiency, microcephaly, highly arched cleft palate, facial abnormalities, and brachydactyly.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype shows duplication of the long arm of chromosome 1.