ArticleJournal of genetic counseling2013
Unintended diagnosis of Von Hippel Lindau syndrome using Array Comparative Genomic Hybridization (CGH): counseling challenges arising from unexpected information.
Article in Journal of genetic counseling, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Genetic Testing in Neurodevelopmental Disorders.Frontiers in pediatrics · 2021Review
- CGH analysis in Colombian patients: findings of 1374 arrays in a seven-year study.Molecular cytogenetics · 2018Article
- Incidental findings from clinical genome-wide sequencing: a review.Journal of genetic counseling · 2014Review
- Predictive genetic testing in children: constitutional mismatch repair deficiency cancer predisposing syndrome.Journal of genetic counseling · 2014Article
Corrections and comments
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Authors and funding
4 authors.
Funding
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Abstract
Array Comparative Genomic Hybridization (array CGH) is a powerful tool for identifying genomic imbalances and providing a diagnosis in individuals with a normal karyotype. It has been particularly useful in the investigation of individuals with developmental delay +/-, dysmorphic features and/or multiple congenital abnormalities. However, this non-targeted method of scanning the whole genome can reveal unexpected information. We present a case where array CGH identified the cause of a proband's moderate mental retardation by discovery of a de novo deletion of chromosome 3p25.3. This deletion was shown to contain at least 25 genes including the VHL gene, the deletion or mutation of which leads to Von Hippel Lindau (VHL) syndrome. Presymptomatic testing for VHL is usually offered after appropriate genetic counseling about the implications of this condition. Therefore, scanning the genome by array CGH presents a number of challenges for the genetic counselor. We suggest that further understanding of the psychosocial effects of array CGH is needed in order for appropriate pre- and post-test counseling to be provided.
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