Ontology highlight
ABSTRACT:
SUBMITTER: Schwarzbraun T
PROVIDER: S-EPMC2669880 | biostudies-literature | 2009 May
REPOSITORIES: biostudies-literature
Schwarzbraun T T Obenauf A C AC Langmann A A Gruber-Sedlmayr U U Wagner K K Speicher M R MR Kroisel P M PM
Journal of medical genetics 20090305 5
<h4>Background</h4>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 ...[more]