Chromosome 15q tetrasomy syndrome. Tetrasomy 15q.
Incidence
Very rare syndrome. Sporadic.
Clinical Characteristics
A rare chromosomal aberration characterized by presence of two additional copies of a fragment of the long arms in an otherwise diploid chromosome 15 occurring in association with multiple abnormalities, including metopic craniosynostosis, facial anomalies, cranial asymmetry, atrio-septal defects, hydronephrosis, flexion contractures of the lower limbs, sensorineural hearing loss, and mental retardation.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Chromosome 15q tetrasomy.