Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report.

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第一作者： Caroline,Lekszas

第一单位： Institute of Human Genetics, Julius Maximilians University Würzburg, Biozentrum, Am Hubland, 97074, Würzburg, Germany.

作者： Caroline,Lekszas ^[1] ; Indrajit,Nanda ^[1] ; Barbara,Vona ^[1] ; Julia,Böck ^[1] ; Farah,Ashrafzadeh ^[2] ; Nahid,Donyadideh ^[2] ; Farnoosh,Ebrahimzadeh ^[3] ; Najmeh,Ahangari ^[4] ; Reza,Maroofian ^[5] ; Ehsan Ghayoor,Karimiani ^[5] ; Thomas,Haaf ^[6]

作者单位： Institute of Human Genetics, Julius Maximilians University Würzburg, Biozentrum, Am Hubland, 97074, Würzburg, Germany. ^[1] Department of Pediatric Diseases, Mashhad University of Medical Sciences, Mashhad, Iran. ^[2] Department of Internal Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. ^[3] Department of Modern Sciences and Technologies, Mashhad University of Medical Sciences, Mashhad, Iran. ^[4] Molecular and Clinical Sciences Institute, St. George's University of London, Cranmer Terrace, London, UK. ^[5] Institute of Human Genetics, Julius Maximilians University Würzburg, Biozentrum, Am Hubland, 97074, Würzburg, Germany. thomas.haaf@uni-wuerzburg.de. ^[6]

关键词 Copy number variation Duplication-deficiency Familial Beckwith-Wiedemann syndrome Genomic imprinting Reciprocal translocation Submicroscopic chromosome rearrangement