Chromosome 21q deletion syndrome. 21q minus syndrome. Monosomy 21q.
Incidence
Very rare syndrome. Sporadic.
Clinical Characteristics
Deletion of the long arm of chromosome 21 presents with mental retardation and multiple craniofacial, skeletal, and other anomalies. The phenotype shares common characteristics with the monosomy 21 syndrome.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Deletion of the long arm of chromosome 21.