TY - CHAP M1 - Book, Section TI - Down Syndrome A1 - Pyeritz, Reed E. A2 - Papadakis, Maxine A. A2 - McPhee, Stephen J. A2 - Rabow, Michael W. A2 - McQuaid, Kenneth R. PY - 2023 T2 - Current Medical Diagnosis & Treatment 2023 AB - ESSENTIALS OF DIAGNOSISTypical craniofacial features (flat occiput, epicanthal folds, large tongue).Intellectual disability.Congenital heart disease (eg, atrioventricular canal defects) in 50% of patients.Three copies of chromosome 21 (trisomy 21) or a chromosome rearrangement that results in three copies of a region of the long arm of chromosome 21. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/04/18 UR - accessmedicine.mhmedical.com/content.aspx?aid=1193140383 ER -