TY - JOUR T1 - Predictive diagnosis of the cancer prone Li–Fraumeni syndrome by accident: new challenges through whole genome array testing JF - Journal of Medical Genetics JO - J Med Genet SP - 341 LP - 344 DO - 10.1136/jmg.2008.064972 VL - 46 IS - 5 AU - T Schwarzbraun AU - A C Obenauf AU - A Langmann AU - U Gruber-Sedlmayr AU - K Wagner AU - M R Speicher AU - P M Kroisel Y1 - 2009/05/01 UR - http://jmg.bmj.com/content/46/5/341.abstract N2 - Background: Li–Fraumeni syndrome greatly increases the risk of developing several types of cancer and is usually caused by TP53 germline mutations. Predictive testing of at-risk family members is only offered after a complex genetic counselling process. Recently the clinical implementation of array comparative genomic hybridisation (CGH) has revolutionised the diagnosis of patients with syndromic or non-syndromic mental retardation and has evolved to a routinely performed high resolution whole genome scan.Methods and results: When using array CGH to identify the cause for mental retardation in a 7-year-old child we found a submicroscopic de novo deletion of chromosome 17p13.1, which includes several genes likely to be causative for her phenotype, and also of TP53.Conclusion: Thus, array CGH resulted in an unintended predictive diagnosis of an increased tumour susceptibility as observed in Li–Fraumeni syndrome. ER -