Chromosome 7p duplication syndrome. 7p+ syndrome. Trisomy 7p.
Incidence
Very rare syndrome. Sporadic. Most cases are due to a familial translocation but some are a result of de novo duplication.
Clinical Characteristics
Duplication of the short arm of chromosome 7. Clinical manifestations vary with the size of duplication and the involvement of additional chromosomes and usually include mental retardation, dolichocephaly, micrognathia, upslanting palpebral fissures, low-set malformed ears, abnormal dermatoglyphics, and other anomalies.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Duplication of the short arm of chromosome 7.