Alexis Billes, Mathilde Pujalte, Guillaume Jedraszak, Daniel Amsallem, Elise Boudry-Labis, Odile Boute, Sonia Bouquillon, Elise Brischoux-Boucher, Patrick Callier, Charles Coutton, Anne-Laude Avice Denizet, Klaus Dieterich, Paul Kuentz, James Lespinasse, Benoît Mazel, Gilles Morin, Florence Amram, Perrine Pennamen, Marlène Rio, Juliette Piard, Audrey Putoux, Mélanie Rama, Virginie Roze-Guillaumey, Caroline Schluth-Bolard, Marianne Till, Chloé Trouvé, Gaëlle Vieville, Caroline Rooryck, Damien Sanlaville, Nicolas Chatron
Xq28 int22h-1/int22h-2 duplication is the result of non-allelic homologous recombination between int22h-1/int22h-2 repeats separated by 0.5 Mb. It is responsible for a syndromic form of intellectual disability (ID), with recurrent infections and atopic diseases. Minor defects, nonspecific facial dysmorphic features, and overweight have also been described. Half of female carriers have been reported with ID, whereas all reported evaluated born males present mild to moderate ID, suggesting complete penetrance...
April 1, 2024: Clinical Genetics