The genetics of microdeletion and microduplication syndromes: An update

Annual Review of Genomics and Human Genetics

Volumn 15, Issue , 2014, Pages 215-244

  Watson, Corey T ^a   Marques Bonet, Tomas ^b,c,d   Sharp, Andrew J ^a   Mefford, Heather C ^e  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b CSIC   (Spain)

^c INSTITUCIÓ CATALANA DE RECERCA I ESTUDIS AVANÇATS ICREA   (Spain)

^d Centro Nacional de Analisis Genomico   (Spain)

^e UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

copy number variation; developmental delay; intellectual disability; microarray; nonallelic homologous recombination; recurrent rearrangement

Indexed keywords

CATECHOL METHYLTRANSFERASE;

ATTENTION DEFICIT DISORDER; CHROMOSOME 15Q; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME MICRODELETION; CHROMOSOME MICRODUPLICATION; CHROMOSOME REARRANGEMENT; COPY NUMBER VARIATION; CYTOGENETICS; DNA REPAIR; DNA REPLICATION; DOUBLE STRANDED DNA BREAK; EPILEPSY; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HEART ATRIUM SEPTUM DEFECT; HOMOLOGOUS RECOMBINATION; HUMAN; HUMAN CHROMOSOME; HUMAN GENOME; NONHUMAN; PATHOGENICITY; REVIEW; SCHIZOPHRENIA; SINGLE NUCLEOTIDE POLYMORPHISM; WILLIAMS BEUREN SYNDROME; CHROMOSOME ABERRATION; DEVELOPMENTAL DISORDER; GENETICS; KARYOTYPING; PATHOLOGY; PHENOTYPE;

CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; DEVELOPMENTAL DISABILITIES; GENOME, HUMAN; HUMANS; KARYOTYPING; PHENOTYPE;

EID: 84906891111     PISSN: 15278204     EISSN: 1545293X     Source Type: Book Series    
DOI: 10.1146/annurev-genom-091212-153408     Document Type: Review

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