22q13 microduplication in two patients with common clinical manifestations: A recognizable syndrome?

American Journal of Medical Genetics, Part A

Volumn 143, Issue 23, 2007, Pages 2804-2809

  Okamoto, Nobuhiko ^a   Kubota, Takeo ^b   Nakamura, Yutaka ^c   Murakami, Ryusuke ^c   Nishikubo, Toshiya ^d   Tanaka, Ichiro ^d   Takahashi, Yukihiro ^d   Hayashi, Shin ^e   Imoto, Issei ^e   Inazawa, Johji ^e   Hosokai, Noboru ^f   Kohsaka, Shinichi ^g   Uchino, Shigeo ^g  

^a RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^b UNIVERSITY OF YAMANASHI   (Japan)

^c Awaji Prefecutural Hopsital ^*  (Japan)

^d NARA MEDICAL UNIVERSITY   (Japan)

^e TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^f LSI MEDIENCE CORPORATION   (Japan)

^g NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

Comparative genomic hybridization; Mental retardation; SHANK3; The 22q13 deletion syndrome; The 22q13 microduplication syndrome

Indexed keywords

ANAMNESIS; ARTICLE; CASE REPORT; CHROMOSOME 12Q; CHROMOSOME DUPLICATION; CHROMOSOME TRANSLOCATION; CLINICAL EXAMINATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOFACIAL MALFORMATION; FEMALE; HUMAN; IN SITU HYBRIDIZATION; MICRODUPLICATION SYNDROME; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL;

BRAIN; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 22; DEVELOPMENTAL DISABILITIES; FEMALE; GROWTH DISORDERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MAGNETIC RESONANCE IMAGING; MUSCLE HYPOTONIA; SYNDROME;

EID: 36849056159     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31771     Document Type: Article

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