a genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33genotype-first方法分子和临床特征的罕见新创microdeletion 20 q13.33.pdfVIP

A Genotype-First Approach for the Molecular and Clinical Characterization of Uncommon De Novo Microdeletion of 20q13.33 1 2,3 2,3 4 4 Ryan N. Traylor , Damien L. Bruno , Trent Burgess , Robert Wildin , Anne Spencer , Devika 2,3 2,3 2 5 1 Ganesamoorthy , David J. Amor , Matthew Hunter , Michael Caplan , Jill A. Rosenfeld , Aaron 1 1 1 1 2,3 Theisen , Beth S. Torchia , Lisa G. Shaffer , Blake C. Ballif *, Howard R. Slater 1 Signature Genomic Laboratories, Spokane, Washington, United States of America, 2 Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Royal Children’s Hospital, Parkville, Victoria, Australia, 3 Department of Pediatrics, University of Melbourne, Royal Children’s Hospital, Parkville, Victoria, Australia, 4 St. Luke’s Regional Medical Center, Boise, Idaho, United States of America, 5 Northshore University Healthsystem, Pritzker School of Medicine, University of Chicago, Chicago, Illinois, United States of America Abstract Background: Subtelomeric deletions of the long arm of chromosome 20 are rare, with only 11 described in the literature. Clinical features of individuals with these microdeletions include severe limb malformations, skeletal abnormalities, growth retardation, developmental and speech delay, mental retardation, seizures and mild, non-specific dysmorphic features. Methodology/Principal Findings: We characterized microdeletions at 20q13.33 in six individuals referred for genetic evaluation of deve