Chromosome 16q deletion syndrome. Fryns syndrome. 16q minus syndrome. Monosomy 16q.
Incidence
Very rare syndrome. Sporadic.
Clinical Characteristics
Deletion of the long arm of chromosome 16 characterized mainly by developmental delay, craniofacial anomalies, feeding difficulties, failure to thrive, hypotonia, and other disorders. The phenotype varies with the breakpoints. Deletions involving q12 or q22.1 have similar phenotypes; those involving more distal regions, from 16q to 16q24.1, tend to have relatively mild dysmorphism, patients with deletions 16q21 have a normal phenotype, and deletions in regions q24.2 and q24.3 are believed to be lethal.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Deletion of the long arm of chromosome 16