Implications of copy number variation in people with chromosomal abnormalities: Potential for greater variation in copy number state may contribute to variability of phenotype

HUGO Journal

Volumn 4, Issue 1-4, 2010, Pages 1-9

  de Smith, Adam J ^a   Trewick, Anne L ^a   Blakemore, Alexandra I F ^a  

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

Author keywords

Aneuploidy; Chromosomal abnormalities; Copy number variation; Phenotypic variability

Indexed keywords

ACUTE MEGAKARYOCYTIC LEUKEMIA; ANEUPLOIDY; ARTICLE; CHROMOSOME ABERRATION; CONGENITAL HEART MALFORMATION; COPY NUMBER VARIATION; DOWN SYNDROME; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; GENE EXPRESSION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; PHENOTYPE; PHENOTYPIC VARIATION; POLYPLOIDY; PRIORITY JOURNAL; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 77955195196     PISSN: 18776558     EISSN: 18776566     Source Type: Journal    
DOI: 10.1007/s11568-010-9144-z     Document Type: Article

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