Neurosurgical Evaluation and Management of Patients with Chromosomal Abnormalities

Patients with chromosomal abnormalities are at risk for numerous neurosurgical pathologies, given the broad impact and multisystem involvement of these disorders. Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), Patau syndrome (trisomy 13), Klinefelter syndrome (47,XXY), and velocardiofacial or DiGeorge syndrome (22q11.2 deletion) are particularly associated with neurosurgical concerns. Given the heterogeneity of concerns and presentations, these patients benefit from multidisciplinary care provided by teams familiar with their specific syndrome.