Chromosome 22 monosomy syndrome. Monosomy 22.
Incidence
Very rare syndrome. Sporadic.
Clinical Characteristics
Absence of one chromosome of one pair in an otherwise diploid cell of chromosome 22 associated with psychomotor retardation and multiple orofacial, digital, and other congenital anomalies.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Absence of one chromosome of one pair in an otherwise diploid cell of chromosome 22.