First report of de novo 12q14.2-q23.3 duplication: patient with multiple congenital anomalies, neurodevelopmental delay, and a connective tissue disorder-like phenotype including cutis laxa.

aCollege of Medicine, University of Nebraska Medical Center; bDivision of Cardiology, Department of Pediatrics, Children’s Hospital and Medical Center cMunroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska, USA Received 14 October 2019 Accepted 28 January 2020 Correspondence to Lois J. Starr, MD, PhD, University of Nebraska Medical Center, 985440 Nebraska Medical Center, Omaha, NE 68198-5440, USA, Tel: +402 559 6962; fax: +402 559 6688; e-mail: [email protected]