A de novo 7.9 Mb deletion in 22q13.2->qter in a boy with autistic features, epilepsy, developmental delay atopic dermatitis and abnormal immunological findings

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Title:	A de novo 7.9 Mb deletion in 22q13.2->qter in a boy with autistic features, epilepsy, developmental delay atopic dermatitis and abnormal immunological findings
Authors:	陳持平;Chen, Chih-Ping;Lin, Shuan-Pei;Chern, Schu-Rern;Tsai, Fuu-Jen;Wu, Pei-Chen;Lee, Chen-Chi;Chen, Yu-Ting;Wang, Wayseen
Contributors:	生物科技學系
Keywords:	Array-CGH;22q13 deletion syndrome;Autism;Epilepsy;Atopic dermatitis;Immune system;SHANK3;NCAPH2;CYP2D6
Date:	2010-09
Issue Date:	2012-11-23 09:13:39 (UTC+0)
Abstract:	We report a 5-year-old boy with mental retardation, autistic features, epilepsy, developmental delay, atopic dermatitis and abnormal immunological findings, carrying a 7.9 Mb de novo deletion of chromosome 22q13.2→qter. This region contains the SHANK3, NCAPH2 and CYP2D6 genes which are associated with T-cell immune response. The present case provides evidence that 22q13 deletion syndrome may be associated with immune system dysfunction in addition to neuropsychiatric disorders.
Relation:	European Journal of Medical Genetics
Appears in Collections:	[Department of Biotechnology] Journal Article

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