Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring

American Journal of Human Genetics

Volumn 96, Issue 4, 2015, Pages 651-656

  De Pagter, Mirjam S ^a   Van Roosmalen, Markus J ^a   Baas, Annette F ^a   Renkens, Ivo ^a   Duran, Karen J ^a   Van Binsbergen, Ellen ^a   Tavakoli Yaraki, Masoumeh ^a,b   Hochstenbach, Ron ^a   Van Der Veken, Lars T ^a   Cuppen, Edwin ^a   Kloosterman, Wigard P ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b IRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHILD; CHROMOSOME; CHROMOSOME ANALYSIS; CHROMOSOME REARRANGEMENT; CHROMOTHRIPSIS; CONGENITAL DISORDER; CONTROLLED STUDY; DOUBLE STRANDED DNA BREAK; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DOSAGE; GENOME; HUMAN; LOSS OF FUNCTION MUTATION; MOTHER; PRIORITY JOURNAL; PROGENY; PROTEIN CODING GENE; COPY NUMBER VARIATION; GENE TRANSLOCATION; GENETICS; INHERITANCE; MICROARRAY ANALYSIS; OPEN READING FRAME; PHENOTYPE;

CONGENITAL ABNORMALITIES; DNA COPY NUMBER VARIATIONS; HUMANS; INHERITANCE PATTERNS; MICROARRAY ANALYSIS; OPEN READING FRAMES; PHENOTYPE; TRANSLOCATION, GENETIC;

EID: 84926249075     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.02.005     Document Type: Article

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