A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number Gains

Human Mutation

Volumn 37, Issue 7, 2016, Pages 661-668

  Masset, Heleen ^a   Hestand, Matthew S ^a   Van Esch, Hilde ^a   Kleinfinger, Pascale ^b   Plaisancié, Julie ^c   Afenjar, Alexandra ^d   Molignier, Romain ^e   Schluth Bolard, Caroline ^f,g   Sanlaville, Damien ^f,g   Vermeesch, Joris R ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b LABORATOIRE CERBA   (France)

^c CHU PURPAN   (France)

^d ARMAND TROUSSEAU HOSPITAL   (France)

^e Laboratoire de Biologie Vasculaire   (France)

^f HOSPICES CIVILS DE LYON   (France)

^g LYON NEUROSCIENCE RESEARCH CENTER   (France)

Author keywords

chromoanagenesis; chromoanasynthesis; chromothripsis; polymerase theta

Indexed keywords

DNA;

ARTICLE; AUTISM; CASE REPORT; CHROMOANAGENESIS; CHROMOSOME; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; CYTOGENETICS; DNA END JOINING REPAIR; DNA EXTRACTION; EYE EXAMINATION; FACE DYSMORPHIA; FACIES; FEMALE; GENE INSERTION SEQUENCE; GENE REARRANGEMENT; GENERALIZED EPILEPSY; HEARING TEST; HEMIPARESIS; HUMAN; HYPERPHAGIA; INTELLECTUAL IMPAIRMENT; LEARNING DISORDER; MACROCEPHALY; MALE; MOTOR DYSFUNCTION; MOTOR PERFORMANCE; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OBESITY; PRIORITY JOURNAL; PROBLEM BEHAVIOR; SCOLIOSIS;

EID: 84974686950     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22984     Document Type: Article

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