Chromosome 17q deletion syndrome. 17q minus syndrome. Monosomy 17q.
Incidence
Very rare syndrome. Sporadic.
Clinical Characteristics
Deletion of the long arm of chromosome 17 with multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb, and other abnormalities. The syndrome is rare and is frequently lethal. Deletion of the long arm of chromosome 17 was reported in Hunter syndrome.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Deletion of the long arm of chromosome 17