Journal of medical genetics · 2009
Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole genome array testing.
Клинический случайПисьмо в редакциюПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Schwarzbraun T, Obenauf A C, Langmann A, Gruber-Sedlmayr U, Wagner K, Speicher M R, Kroisel P M
Аннотация
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.
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.
Предметные рубрики MeSH
Base SequenceChildChromosome BreakageChromosome DeletionChromosomes, Human, Pair 17Comparative Genomic HybridizationDNA Mutational AnalysisFemaleGenetic Predisposition to DiseaseHumansIn Situ Hybridization, FluorescenceLi-Fraumeni SyndromeMolecular Sequence DataMutationNeoplasmsTumor Suppressor Protein p53