Deletion and duplication of 15q24: Molecular mechanisms and potential modification by additional copy number variants

Genetics in Medicine

Volumn 12, Issue 9, 2010, Pages 573-586

  El Hattab, Ayman W ^a   Zhang, Feng ^a,b   Maxim, Rolanda ^c   Christensen, Katherine M ^c   Ward, Jewell C ^d   Hines Dowell, Stacy ^e   Scaglia, Fernando ^a,f   Lupski, James R ^a,f   Cheung, Sau Wai ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b FUDAN UNIVERSITY   (China)

^c SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

^e LE BONHEUR CHILDREN S HOSPITAL   (United States)

^f TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

15q24 deletion; 15q24 duplication; copy number variants (CNVs); genomic mutational load; genomic rearrangement

Indexed keywords

ADOLESCENT; ARTICLE; BODY DYSMORPHIC DISORDER; CARDIOVASCULAR MALFORMATION; CASE REPORT; CHILD; CHROMOSOME 15Q; CHROMOSOME 16Q; CHROMOSOME 2Q; CHROMOSOME 3Q; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; COGNITIVE DEFECT; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DNA SEQUENCE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GROWTH RETARDATION; HETEROTAXY SYNDROME; HUMAN; INHERITANCE; INTESTINE ATRESIA; MALE; MICROARRAY ANALYSIS; MICROCEPHALY; NEWBORN ASSESSMENT; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; SCHOOL CHILD;

ADOLESCENT; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 15; DEVELOPMENTAL DISABILITIES; FEMALE; GENE DOSAGE; GENETIC VARIATION; HUMANS; INFANT; MALE; PHENOTYPE;

EID: 77957245394     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3181eb9b4a     Document Type: Article

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