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SHR Neuro Krebs Kardio Lipid Stoffw Microb

Schwarzbraun, T; Obenauf, A; Langmann, A; Gruber-Sedlmayr, U; Wagner, K; Speicher, M; Kroisel, P.
Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole genome array testing.
J Med Genet. 2009; 46(5): 341-344. Doi: 10.1136/jmg.2008.064972 (- Case Report) [OPEN ACCESS]
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Führende Autor*innen der Med Uni Graz
Obenauf Anna Christina
Schwarzbraun Thomas
Speicher Michael
Co-Autor*innen der Med Uni Graz
Gruber-Sedlmayr Ursula
Kroisel Peter
Langmann Andrea
Wagner Klaus

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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.
Find related publications in this database (using NLM MeSH Indexing)
Base Sequence -
Child -
Chromosome Breakage -
Chromosome Deletion -
Chromosomes, Human, Pair 17 - genetics
Comparative Genomic Hybridization - methods
DNA Mutational Analysis -
Female -
Genetic Predisposition to Disease -
Humans -
In Situ Hybridization, Fluorescence -
Li-Fraumeni Syndrome - complications Li-Fraumeni Syndrome - diagnosis Li-Fraumeni Syndrome - genetics
Molecular Sequence Data -
Mutation -
Neoplasms - etiology Neoplasms - genetics
Tumor Suppressor Protein p53 - genetics

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