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

European Journal of Medical Genetics

Volumn 53, Issue 5, 2010, Pages 329-332

  Chen, Chih Ping ^a,b,c,d   Lin, Shuan Pei ^a   Chern, Schu Rern ^a   Tsai, Fuu Jen ^c,e   Wu, Pei Chen ^a   Lee, Chen Chi ^a   Chen, Yu Ting ^a   Chen, Wen Ling ^a   Wang, Wayseen ^a,f  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b ASIA UNIVERSITY   (Taiwan)

^c CHINA MEDICAL UNIVERSITY   (Taiwan)

^d NATIONAL YANG MING UNIVERSITY   (Taiwan)

^e CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^f TATUNG UNIVERSITY   (Taiwan)

Author keywords

22q13 deletion syndrome; Array CGH; Atopic dermatitis; Autism; CYP2D6; Epilepsy; Immune system; NCAPH2; SHANK3

Indexed keywords

ARTICLE; ATOPIC DERMATITIS; AUTISM; CASE REPORT; CELLULAR IMMUNITY; CHILD; CHROMOSOME 22Q; CHROMOSOME DELETION; CYP2D6 GENE; DEVELOPMENTAL DISORDER; EPILEPSY; GENE; GENETIC ASSOCIATION; HUMAN; IMMUNE RESPONSE; IMMUNOPATHOLOGY; KARYOTYPE 46,XY; MALE; MENTAL DISEASE; MUSCLE HYPOTONIA; NCAPH2 GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHELAN MCDERMID SYNDROME; PRESCHOOL CHILD; SHANK3 GENE; VASCULAR DISEASE;

ABNORMALITIES, MULTIPLE; AUTISTIC DISORDER; CARRIER PROTEINS; CELL CYCLE PROTEINS; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOCHROME P-450 CYP2D6; DERMATITIS, ATOPIC; DEVELOPMENTAL DISABILITIES; EPILEPSY; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MALE; MENTAL RETARDATION; NUCLEAR PROTEINS; SYNDROME;

EID: 77956908654     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.06.004     Document Type: Article

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