Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q11.2

American Journal of Medical Genetics

Volumn 65, Issue 2, 1996, Pages 101-103

  Li, Mengrong ^a   Zackai, Elaine H ^a   Niikawa, Norio ^c   Kaplan, Paige ^a   Driscoll, Deborah A ^a,b  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b HOSPITAL OF THE UNIVERSITY OF PENNSYLVANIA   (United States)

^c NAGASAKI UNIVERSITY   (Japan)

Author keywords

chromosome 22q11 deletion; fluorescence in situ hybridization; Kabuki syndrome

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CHROMOSOME DELETION; CONGENITAL HEART DISEASE; DIGEORGE SYNDROME; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCUS; GROWTH RETARDATION; HUMAN; MENTAL RETARDATION MALFORMATION SYNDROME; METAPHASE; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; AORTIC COARCTATION; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; CLEFT PALATE; DEVELOPMENTAL DISABILITIES; DIGEORGE SYNDROME; FACE; FEMALE; GROWTH DISORDERS; HEART DEFECTS, CONGENITAL; HUMANS; HYPERTENSION; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE; PREGNANCY;

EID: 0029858527     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19961016)65:2<101::AID-AJMG3>3.0.CO;2-V     Document Type: Article

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