A de novo 2q35-q36.1 deletion incorporating IHH in a Chinese boy (47,XYY) with syndactyly, type III Waardenburg syndrome, and congenital heart disease D. Wang1,2*, G.F. Ren3*, H.Z. Zhang1, C.Y. Yi4 and Z.J. Peng3 1Medical Institute of Pediatrics, Qilu Children’s Hospital of Shandong University, Jinan, Shandong, China 2Institute of Cardiovascular Disease, General Hospital of Jinan Military Region, Jinan, Shandong, China 3Department of Pediatrics, Qilu Children’s Hospital of Shandong University, Jinan, Shandong, China 4Children’s Medical Laboratory Diagnosis Center, Qilu Children’s Hospital of Shandong University, Jinan, Shandong, China *These authors contributed equally to this study. Corresponding authors: C.Y. Yi / Z.J. Peng E-mail:
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[email protected] Genet. Mol. Res. 15 (4): gmr15049060 Received August 5, 2016 Accepted November 8, 2016 Published December 2, 2016 DOI http://dx.doi.org/10.4238/gmr15049060 Copyright © 2016 The Authors. This is an open-access article distributed under the terms of the Creative Commons Attribution ShareAlike (CC BY-SA) 4.0 License. ABSTRACT. Reports of terminal and interstitial deletions of the long arm of chromosome 2 are rare in the literature. Here, we present a case report concerning a Chinese boy with a 47,XYY karyotype and a de novo deletion comprising approximately 5 Mb between 2q35 and q36.1, along with syndactyly, type III Waardenburg syndrome, and congenital heart disease. High-resolution chromosome analysis Genetics and Molecular Research 15 (4): gmr15049060 D. Wang et al. 2 to detect copy number variations was carried out using an Affymetrix microarray platform, and the genes affected by the patient’s deletion, including IHH, were determined.