Chromosome 20q duplication syndrome.20q+ syndrome. Trisomy 20q.
Incidence
Very rare syndrome. Sporadic.
Clinical Characteristics
Duplication of the long arm of chromosome 20. The phenotype usually consists of brachycephaly, epicanthus, anteverted nostrils, short neck, vertical chin dimple, and congenital heart defect or murmur. Delayed development growth, speech, motor, and social interactions in some cases.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Duplication of the long arm of chromosome 20.