Pathogenic or not? Assessing the clinical relevance of copy number variants

Clinical Genetics

Volumn 84, Issue 5, 2013, Pages 415-421

  Hehir Kwa, Jy ^a   Pfundt, R ^a   Veltman, Ja ^a   de Leeuw, N ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Clinically relevant; Copy number variation; Interpretation; Microarray; Pathogenic

Indexed keywords

AUTISM; AUTOSOMAL DOMINANT INHERITANCE; BECKWITH WIEDEMANN SYNDROME; CHROMOSOME 15; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; CONGENITAL MALFORMATION; COPY NUMBER VARIATION; DIGENIC INHERITANCE; DOMINANT INHERITANCE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION; GENOME IMPRINTING; GENOMIC MICROARRAY; HAPPY PUPPET SYNDROME; HOMOLOGOUS RECOMBINATION; HUMAN; HUMAN GENOME; INHERITANCE; INTELLECTUAL IMPAIRMENT; MICROARRAY ANALYSIS; MOSAICISM; POINT MUTATION; PRADER WILLI SYNDROME; PRIORITY JOURNAL; RECESSIVE INHERITANCE; REVIEW; SCHIZOPHRENIA; SEGMENTAL DUPLICATION; SILVER RUSSELL SYNDROME; SINGLE NUCLEOTIDE VARIANT; UNIPARENTAL DISOMY; X CHROMOSOMAL INHERITANCE; X CHROMOSOME; X CHROMOSOME INACTIVATION;

CLINICALLY RELEVANT; COPY NUMBER VARIATION; INTERPRETATION; MICROARRAY; PATHOGENIC;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOME ABERRATIONS; DATABASES, GENETIC; DNA COPY NUMBER VARIATIONS; FEMALE; GENOME, HUMAN; GENOMICS; HUMANS; INHERITANCE PATTERNS; INTELLECTUAL DISABILITY; MALE; MODELS, GENETIC; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE;

EID: 84885844359     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12242     Document Type: Review

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