The internet is parents' main source of information about psychiatric manifestations of 22q11.2 deletion syndrome (22q11.2DS)

van den Bree, Marianne Bernadette ORCID: https://orcid.org/0000-0002-4426-3254, Miller, Gregory, Mansell, Elizabeth, Thapar, Anita ORCID: https://orcid.org/0000-0002-3689-737X, Flinter, Frances and Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 2013. The internet is parents' main source of information about psychiatric manifestations of 22q11.2 deletion syndrome (22q11.2DS). European Journal of Medical Genetics 56 (8) , pp. 439-441. 10.1016/j.ejmg.2013.05.001

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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
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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