A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay.

Autor: Ozantürk A; Department of Pediatrics, Metabolism Unit, Hacettepe University, Ankara 06410, Turkey;; Department of Biology, Molecular Biology Section, Hacettepe University, Ankara 06800, Turkey;; Center for Human Disease Modeling, Duke University, Durham, North Carolina 27701, USA;, Davis EE; Center for Human Disease Modeling, Duke University, Durham, North Carolina 27701, USA;, Sabo A; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 77030, USA;, Weiss MM; Department of Clinical Genetics, VU University Medical Center (Amsterdam), NL-1081 HV Amsterdam, The Netherlands;, Muzny D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 77030, USA;, Dugan-Perez S; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 77030, USA;, Sistermans EA; Department of Clinical Genetics, VU University Medical Center (Amsterdam), NL-1081 HV Amsterdam, The Netherlands;, Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 77030, USA;, Özgül KR; Department of Pediatrics, Metabolism Unit, Hacettepe University, Ankara 06410, Turkey;, Yalnızoglu D; Department of Pediatrics, Pediatric Neurology Unit, Hacettepe University, Ankara 06410, Turkey., Serdaroglu E; Department of Pediatrics, Pediatric Neurology Unit, Hacettepe University, Ankara 06410, Turkey., Dursun A; Department of Pediatrics, Metabolism Unit, Hacettepe University, Ankara 06410, Turkey;, Katsanis N; Center for Human Disease Modeling, Duke University, Durham, North Carolina 27701, USA;

Publikováno v: Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2016 Mar; Vol. 2 (2), pp. a000703.