Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome

American Journal of Medical Genetics

Volumn 140 A, Issue 2, 2006, Pages 170-173

  Shieh, Joseph T C ^a   Hudgins, Louanne ^a   Cherry, Athena M ^a   Shen, Zhezhong ^a   Hoyme, H Eugene ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

8p22; 8p23; Congenital heart disease; Kabuki syndrome; Triplication

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 8P; CHROMOSOME DUPLICATION; CHROMOSOME TRIPLICATION; CLINICAL FEATURE; CONGENITAL HEART DISEASE; EYEBROW; FACIES; FEMALE; FINGER MALFORMATION; GENE NUMBER; GROWTH RETARDATION; HUMAN; HYPERTELORISM; KABUKI MAKEUP SYNDROME; MENTAL DEFICIENCY; PALPEBRAL FISSURE ANOMALY; PHENOTYPE; PRIORITY JOURNAL; PROMINENT EAR; STRUCTURAL CHROMOSOME ABERRATION;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 8; FACE; FEMALE; GROWTH DISORDERS; HUMANS; KARYOTYPING; MENTAL RETARDATION; SYNDROME;

EID: 30144445771     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31036     Document Type: Article

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