title: A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features.
abstract: 5q11.2 Deletion is a very rare genomic disorder, and its clinical phenotype has not yet been characterized. This report describes a patient with an 8.6 Mb deletion, showing hypotonia, mild developmental delay, short stature, and distinctive dysmorphic features (frontal bossing, square face, deep-set eyes, prominent columella, long philtrum, thin lips). © 2016 Wiley Periodicals, Inc.
authors.affiliation: Department of Molecular Medicine and Medical Biotechnologies, Federico II University of Naples, Naples, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Fontana
authors.affiliation: Department of Molecular Medicine and Medical Biotechnologies, Federico II University of Naples, Naples, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Tortora
authors.affiliation: Department of Experimental Medicine, Cardiomiology and Medical Genetics, Second University of Naples, Naples, Italy.
authors.forename: Roberta
authors.initials: R
authors.lastname: Petillo
authors.affiliation: Department of Molecular Medicine and Medical Biotechnologies, Federico II University of Naples, Naples, Italy.
authors.forename: Mariateresa
authors.initials: M
authors.lastname: Falco
authors.affiliation: Department of Molecular Medicine and Medical Biotechnologies, Federico II University of Naples, Naples, Italy.
authors.forename: Martina
authors.initials: M
authors.lastname: Miniero
authors.affiliation: Service of Medical Genetics, Cardarelli Hospital, Naples, Italy.
authors.forename: Davide
authors.initials: D
authors.lastname: De Brasi
authors.affiliation: Service of Medical Genetics, Cardarelli Hospital, Naples, Italy.
authors.forename: Maria Antonietta
authors.initials: MA
authors.lastname: Pisanti
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D001921:Brain / Q000002:abnormalities; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics*; D004452:Echocardiography; D056726:Genetic Association Studies; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D010641:Phenotype; D013577:Syndrome; D014463:Ultrasonography
keywords: 5q11.2; deletion; developmental delay; short stature; syndrome