Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome

European Journal of Human Genetics

Volumn 13, Issue 2, 2005, Pages 260-263

  Schoumans, Jacqueline ^a   Nordgren, Ann ^a,b   Ruivenkamp, Claudia ^a,c   Brøndum Nielsen, Karen ^d   Teh, Bin Tean ^e   Annéren, Göran ^f   Holmberg, Eva ^g   Nordenskjöld, Magnus ^a   Anderlid, Britt Marie ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b UMEÅ UNIVERSITY HOSPITAL   (Sweden)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d JOHN F KENNEDY INSTITUTE   (Denmark)

^e VAN ANDEL RESEARCH INSTITUTE   (United States)

^f UPPSALA UNIVERSITY   (Sweden)

^g SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Comparative genomic hybridization (CGH); Duplication 8p; Kabuki syndrome; Mental retardation; Microarray; Microdeletion

Indexed keywords

ADOLESCENT; ARTICLE; BLOOD SAMPLING; CAUCASIAN; CHILD; CHROMOSOME 8P; CHROMOSOME ANALYSIS; CHROMOSOME POLYMORPHISM; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; COMPARATIVE STUDY; DNA MICROARRAY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; GENE LOCATION; GENETIC HETEROGENEITY; GENETIC SCREENING; HUMAN; KABUKI MAKEUP SYNDROME; MALE; MICROSATELLITE MARKER; PRIORITY JOURNAL;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 8; FEMALE; GENETIC MARKERS; GENETIC SCREENING; GENOME, HUMAN; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MENTAL RETARDATION; SEQUENCE DELETION;

EID: 13544261742     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201309     Document Type: Article

References (18)

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