Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome
نویسندگان
چکیده
Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome Hagit N. Baris*, Wai-Man Chan*, Caroline Andrews, Doron M. Behar, Diana J. Donovan, Cynthia C. Morton, Judith Ranells, Tuya Pal, Azra H. Ligon & Elizabeth C. Engle Program in Genomics, Boston Children’s Hospital, Boston, Massachusetts, 02115 The Recanati Genetic Institute, Beilinson Hospital, Rabin Medical Center, Petah Tikva, Israel Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel Department of Medicine (Genetics), Boston Children’s Hospital, Boston, Massachusetts, 02115 Department of Neurology, Boston Children’s Hospital, Boston, Massachusetts, 02115 The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Boston, Massachusetts, 02115 Harvard Medical School, Boston, Massachusetts, 02115 Howard Hughes Medical Institute, Chevy Chase, Maryland, 20815 Department of Ophthalmology, Boston Children’s Hospital, Boston, Massachusetts, 02115 Department of Pathology, Brigham and Women’s Hospital, Boston, Massachusetts, 02115 Department of Pediatrics, University of South Florida, Tampa, Florida, 33606 H.Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, 33612 Department of Oncologic Sciences, College of Medicine, The University of South Florida, Tampa, Florida, 33612 FM Kirby Neurobiology Center, Boston Children’s Hospital, Boston, Massachusetts, 02115
منابع مشابه
A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient.
PURPOSE To identify the gene disrupted by a de novo reciprocal balanced translocation t(6;8)(q26;q13) in a patient with Duane retraction syndrome (DURS). The break point in chromosome arm 8q is positioned within the DURS1 critical region. METHODS Fluorescence in situ hybridization (FISH) analysis using cosmid and BAC clones covering the DURS1 locus was performed to define the break point posi...
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