Guillaume Jedraszak, Florence Jobic, Aline Receveur, Frédéric Bilan, Brigitte Gilbert-Dussardier, Busa Tiffany, Chantal Missirian, Marjolaine Willems, Sylvie Odent, Josette Lucas, Christele Dubourg, Elise Schaefer, Sophie Scheidecker, James Lespinasse, Alice Goldenberg, Anne-Marie Guerrot, Géraldine Joly-Helas, Pascal Chambon, Cédric Le Caignec, Albert David, Charles Coutton, Véronique Satre, Gaëlle Vieville, Florence Amblard, Radu Harbuz, Damien Sanlaville, Marianne Till, Catherine Vincent-Delorme, Cindy Colson, Joris Andrieux, Sophie Naudion, Jérome Toutain, Caroline Rooryck-Thambo, Bénédicte de Fréminville, Fabienne Prieur, Valérie Cormier Daire, Daniel Amram, Pascale Kleinfinger, Matthias B Schulze, Gisela Raabe-Meyer, Carolina Courage, Johannes Lemke, Eunice G Stefanou, Thomaidis Loretta, Manolakos Emmanouil, Sophia Kitsiou Tzeli, Henryka Sodowska, Jasen Anderson, Adayapalam Nandini, Henri Copin, Loïc Garçon, Thomas Liehr, Gilles Morin
Cat Eye Syndrome (CES) is a rare genetic disease caused by the presence of a small supernumerary marker chromosome derived from chromosome 22, which results in a partial tetrasomy of 22p-22q11.21. CES is classically defined by association of iris coloboma, anal atresia, and preauricular tags or pits, with high clinical and genetic heterogeneity. We conducted an international retrospective study of patients carrying genomic gain in the 22q11.21 chromosomal region upstream from LCR22-A identified using FISH, MLPA, and/or array-CGH...
November 16, 2023: American Journal of Medical Genetics. Part A