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13q mosaic deletion including <i>RB1</i> associated to mild phenotype and no cancer outcome - case report and review of the literature.

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第一作者： Ilaria,Bestetti

第一单位： 1Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, via Ariosto 13, 20145 Milan, Italy.;2Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy.

作者： Ilaria,Bestetti ^[1] ; Alessandra,Sironi ^[1] ; Ilaria,Catusi ^[2] ; Milena,Mariani ^[3] ; Daniela,Giardino ^[2] ; Siranoush,Manoukian ^[3] ; Donatella,Milani ^[4] ; Lidia,Larizza ^[2] ; Chiara,Castronovo ^[2] ; Palma,Finelli ^[1]

作者单位： 1Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, via Ariosto 13, 20145 Milan, Italy.;2Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy. ^[1] 1Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, via Ariosto 13, 20145 Milan, Italy. ^[2] 3Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy. ^[3] 4Medical Genetics Unit, Pediatric Highly Intensive Care, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. ^[4]

关键词 13q deletion syndrome Array CGH Interphase FISH Mosaicism RB1

DOI 10.1186/s13039-018-0401-5

PMID 30250511

发布时间 2022-03-31

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