Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases

European Journal of Human Genetics

Volumn 22, Issue 8, 2014, Pages 969-978

  Pham, Justin ^a   Shaw, Chad ^a   Pursley, Amber ^a   Hixson, Patricia ^a   Sampath, Srirangan ^a   Roney, Erin ^a   Gambin, Tomasz ^a   Kang, Sung Hae L ^b   Bi, Weimin ^a   Lalani, Seema ^a,c   Bacino, Carlos ^a,c   Lupski, James R ^a,c   Stankiewicz, Pawel ^a   Patel, Ankita ^a   Cheung, Sau Wai ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b Allina Hospitals & Clinics   (United States)

^c TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

array CGH; chromosomal structural abnormalities; CNV; mosaic exon deletion; somatic mosaicism

Indexed keywords

ADOLESCENT; ADULT; ANEUPLOIDY; ARTICLE; CELL LINE; CHILD; CHROMOSOME ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; CYTOGENETICS; DNA MICROARRAY; EXON; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE DUPLICATION; GENE TARGETING; GENOME; HUMAN; ISOCHROMOSOME; MAJOR CLINICAL STUDY; MALE; MARKER CHROMOSOME; MOSAICISM; PRESCHOOL CHILD; PRIORITY JOURNAL; SEX CHROMOSOME; SEX CHROMOSOME ABERRATION; SOMATIC MOSAICISM; YOUNG ADULT; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME MOSAICISM; CHROMOSOME TRANSLOCATION; DIAGNOSTIC TEST ACCURACY STUDY; GENETIC SCREENING; GENOME ANALYSIS; RING CHROMOSOME; SOMATIC CHROMOSOMAL MOSAICISM; CHROMOSOME ABERRATION; CHROMOSOME DISORDERS; GENETICS; MUTATION; PROCEDURES;

ADOLESCENT; ADULT; ANEUPLOIDY; CELL LINE; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; COMPARATIVE GENOMIC HYBRIDIZATION; EXONS; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MOSAICISM; MUTATION; YOUNG ADULT;

EID: 84904678341     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.285     Document Type: Article

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