Clinically Relevant Copy Number Variations Detected in Cerebral Palsy

ABSTRACT: Cerebral palsy (CP) represents a group of non-progressive clinically heterogeneous disorders that are characterized by motor impairment and early age-of-onset, frequently accompanied by co-morbidities. The cause of CP has historically been attributed to environmental stressors resulting in brain damage. While genetic risk factors are also implicated, guidelines for diagnostic assessment of CP do not recommend for routine genetic testing. Given numerous reports of etiologic copy number variations (CNVs) in other neurodevelopmental disorders, we used microarrays to genotype a population-based prospective cohort of children with CP and their parents. Here we identify de novo CNVs in 8/115 (7.0%) CP patients (~1% rate in controls). In four children, large chromosomal abnormalities deemed patho

ORGANISM(S): Homo sapiens

SUBMITTER: Matthew Gazzellone 

PROVIDER: E-GEOD-70374 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress