Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics.

ABSTRACT: The correct interpretation of copy number gains in patients with developmental delay and multiple congenital anomalies is hampered by the large number of copy number variations (CNVs) encountered in healthy individuals. The variable phenotype associated with copy number gains makes interpretation even more difficult. Literature shows that inheritence, size and presence in healthy individuals are commonly used to decide whether a certain copy number gain is pathogenic, but no general consensus has been established. We aimed to develop guidelines for interpreting gains detected by array analysis using array CGH data of 300 patients analysed with the 105K Agilent oligo array in a diagnostic setting. We evaluated the guidelines in a second, independent, cohort of 300 patients. In the first 300

SUBMITTER: Hanemaaijer NM 

PROVIDER: S-EPMC3260923 | biostudies-literature | 2012 Feb

REPOSITORIES: biostudies-literature