Chromosome 8q deletion syndrome. 8q minus syndrome. Monosomy 8q.
Incidence
Very rare syndrome. Sporadic.
Clinical Characteristics
Deletion of the long arm of chromosome 8 with craniofacial abnormalities (microcephaly, midfacial hypoplasia, and prominent forehead), psychomotor retardation, and various eye, nose, ear, heart, and skeletal abnormalities. The phenotype and severity of symptoms vary with the type of deletion. Interstitial deletions 8q may be associated with several syndromes, including the tricho-rhino-phalangeal syndromes I and II (Langer-Giedion syndrome).
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Deletion of the long arm of chromosome 8.