Article
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
American journal of medical genetics. Part A - 1 Feb 2023
Jacquin Clémence, Landais Emilie, Poirsier Céline, Afenjar Alexandra, Akhavi Ahmad, Bednarek Nathalie, Bénech Caroline, Bonnard Adeline, Bosquet Damien, Burglen Lydie, Callier Patrick, Chantot-Bastaraud Sandra, Coubes Christine, Coutton Charles, Delobel Bruno, Descharmes Margaux, Dupont Jean-Michel, Gatinois Vincent, Gruchy Nicolas, Guterman Sarah, Heddar Abdelkader, Herissant Lucas, Heron Delphine, Isidor Bertrand, Jaeger Pauline, Jouret Guillaume, Keren Boris, Kuentz Paul, Le Caignec Cedric, Levy Jonathan, Lopez Nathalie, Manssens Zoe, Martin-Coignard Dominique, Marey Isabelle, Mignot Cyril, Missirian Chantal, Pebrel-Richard Céline, Pinson Lucile, Puechberty Jacques, Redon Sylvia, Sanlaville Damien, Spodenkiewicz Marta, Tabet Anne-Claude, Verloes Alain, Vieville Gaelle, Yardin Catherine, Vialard François, Doco-Fenzy Martine
Abstract excerpt
Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1. The 1p36DS is characterized by typical craniofacial features, developmental delay/intellectual disability, hypotonia, epilepsy, cardiomyopathy/congenital heart...
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