Partial tetrasomy of chromosome 22: genetic and surgical implications for otolaryngologists. From: Ear, Nose and Throat Journal | Date: November 1, 2004| Author: Calixto, Nassin; Godinho, Ricardo N.; Goncalves, Tania M.L.; Keogh, Ivan J.; Morales, Gustavo M. | COPYRIGHT 2004 Medquest Communications, LLC. This material is published under license from the publisher through the Gale Group, Farmington Hills, Michigan.  All inquiries regarding rights should be directed to the Gale Group.Copyright information

Abstract

Partial tetrasomy of chromosome 22 is a rare multiple congenital anomaly syndrome that is more commonly known as cat-eye syndrome (CES). It is caused by the duplication of a 2-million base region of chromosome 22 (22 pter [right arrow] q 11.2). The phenotype is extremely variable, and its clinical characteristics include a combination of craniofacial, cardiac, renal, gastrointestinal, and genitourinary defects. We describe a rare occurrence of CES in a Brazilian...