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

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• 作者：Marianne B.M. van den Bree ; Gregory Miller ; Elizabeth Mansell ; Anita Thapar ; Frances Flinter ; Michael J. Owen
• 关键词：22q11.2 deletion syndrome ; 22q11.2DS ; Velo-Cardio-Facial syndrome ; Parental awareness ; Physical manifestations ; Psychiatric manifestations
• 刊名：European Journal of Medical Genetics
• 出版年：2013
• 出版时间：August, 2013
• 年：2013
• 卷：56
• 期：8
• 页码：439-441
• 全文大小：187 K

文摘

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 . 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.