RT Journal Article
SR Electronic
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
FD BMJ Publishing Group Ltd
SP 341
OP 344
DO 10.1136/jmg.2008.064972
VO 46
IS 5
A1 Schwarzbraun, T
A1 Obenauf, A C
A1 Langmann, A
A1 Gruber-Sedlmayr, U
A1 Wagner, K
A1 Speicher, M R
A1 Kroisel, P M
YR 2009
UL http://jmg.bmj.com/content/46/5/341.abstract
AB 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.