van den Bree, Marianne Bernadette ![]() ![]() ![]() |
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Abstract
With advances in laboratory technology, an increasing number of potentially pathogenic CNVs is recognised. The phenotypic effects of some CNVs are well characterised, however, it remains unclear how much information reaches the parents of affected children and by what route. The 22q11.2 deletion syndrome (del22q11.2) is caused by the deletion of approximately 40 genes from the long arm of chromosome 22 and was first described in 1955 [1]. Our study reports the extent to which parents of an affected child are aware of the various manifestation of the condition and describes how they first learned about these potential problems.
Item Type: | Article |
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Date Type: | Publication |
Status: | Published |
Schools: | MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Medicine Psychology Neuroscience and Mental Health Research Institute (NMHRI) |
Subjects: | B Philosophy. Psychology. Religion > BF Psychology R Medicine > R Medicine (General) |
ISSN: | 1769-7212 |
Funders: | Wellcome Trust |
Date of First Compliant Deposit: | 30 March 2016 |
Date of Acceptance: | 10 May 2013 |
Last Modified: | 04 May 2023 21:14 |
URI: | https://orca.cardiff.ac.uk/id/eprint/62482 |
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