title: Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype?
abstract: We report a 19 year-old patient carrying a terminal 20p microdeletion. She displayed clinical features resembling those of two other previously described patients. We suggest that a specific phenotype can be associated with this chromosomal anomaly. Mental retardation, epilepsy, and dysmorphic signs including low-set ears and overfolded helices seem highly characteristic of this syndrome and may define major diagnostic criteria of a recognizable phenotype. Delayed closure of fontanella, delayed permanent teeth eruption, visual disturbances, prominent ear lobes, prominent nasal root and ridge, thin upper lip and brachydactyly may represent inconstant minor criteria.
authors.affiliation: CHU Bordeaux, Hôpital Pellegrin, Service de Génétique Médicale, Centre de Référence des Anomalies du Développement Embryonnaire, 33076 Bordeaux cedex, France. sebastien.moutton@chu-bordeaux.fr
authors.forename: Sébastien
authors.initials: S
authors.lastname: Moutton
authors.forename: Caroline
authors.initials: C
authors.lastname: Rooryck
authors.forename: Jérôme
authors.initials: J
authors.lastname: Toutain
authors.forename: Dorothée
authors.initials: D
authors.lastname: Cailley
authors.forename: Julie
authors.initials: J
authors.lastname: Bouron
authors.forename: Frédéric
authors.initials: F
authors.lastname: Villega
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Taupiac
authors.forename: Didier
authors.initials: D
authors.lastname: Lacombe
authors.forename: Benoît
authors.initials: B
authors.lastname: Arveiler
authors.forename: Cyril
authors.initials: C
authors.lastname: Goizet
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D002135:Calcium-Binding Proteins / Q000235:genetics*; D002872:Chromosome Deletion; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D005260:Female; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D000072100:Jagged-1 Protein; D008565:Membrane Proteins / Q000235:genetics*; D010641:Phenotype; D000072099:Serrate-Jagged Proteins
chemical_list: D002135:Calcium-Binding Proteins; D036341:Intercellular Signaling Peptides and Proteins; C000606273:JAG1 protein, human; D000072100:Jagged-1 Protein; D008565:Membrane Proteins; D000072099:Serrate-Jagged Proteins