A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

European Journal of Human Genetics

Volumn 18, Issue 2, 2010, Pages 258-261

  Franco, Luis M ^a   De Ravel, Thomy ^b   Graham, Brett H ^a   Frenkel, Stephanie M ^c   Van Driessche, Jozef ^d   Stankiewicz, Pawel ^a,e   Lupski, James R ^a,c   Vermeesch, Joris R ^b   Cheung, Sau Wai ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^c TEXAS CHILDREN S HOSPITAL   (United States)

^d VZW Martine Van Camp ^*  (Belgium)

^e INSTITUTE OF MOTHER AND CHILD   (Poland)

Author keywords

Array comparative genomic hybridization; Genomic disorders; Microcephaly; Microduplication; Sotos syndrome

Indexed keywords

ADULT; ARTICLE; BONE DEVELOPMENT; CASE REPORT; CHILD; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; GENE DELETION; GENE DUPLICATION; GENE REARRANGEMENT; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GROWTH REGULATION; HUMAN; MALE; MICROCEPHALY; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; SHORT STATURE; SOTOS SYNDROME; SPEECH DEVELOPMENT;

ADULT; BODY HEIGHT; CHILD; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 5; DEVELOPMENTAL DISABILITIES; FACE; GENE REARRANGEMENT; GENETIC VARIATION; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LANGUAGE DEVELOPMENT DISORDERS; MALE; MICROCEPHALY; NUCLEAR PROTEINS; PHENOTYPE; POINT MUTATION; SEGMENTAL DUPLICATIONS, GENOMIC; SEQUENCE DELETION; SYNDROME;

EID: 74449086534     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.164     Document Type: Article

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