title: A boy with mild mental retardation, mild sensorineural hearing loss and mild facial dysmorphism caused by a 19p13.2 deletion: a case report and review of the literature.
abstract: The investigation of patients with congenital anomalies and/or intellectual disability with modern genetic methods allows the recognition of an increasing number of cases with these chromosomal rearrangements. Here, we present a mildly mentally retarded boy with mild facial dysmorphism, language development delay, mild sensorineural hearing loss due to a deletion of 1,14 Mb on chromosome 19p 13.2. The deletion was de novo and familial history negative for this disorder. To our knowledge this is the first description of a patient with symptoms mentioned above associated with a 19p13.2-p13.2 deletion.
authors.affiliation: Department of Phoniatrics and Pedaudiology, Medical University Hannover, Germany. Electronic address: cornelia.schwemmle@med.ovgu.de.
authors.forename: Cornelia
authors.initials: C
authors.lastname: Schwemmle
authors.affiliation: Institute of Genetics, Martinsried, Germany.
authors.forename: Imma
authors.initials: I
authors.lastname: Rost
authors.affiliation: Institute of Genetics, Bremen, Germany.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Spranger
authors.affiliation: Department of Phoniatrics and Pedaudiology, Medical University Hannover, Germany.
authors.forename: Michael
authors.initials: M
authors.lastname: Jungheim
authors.affiliation: Department of Phoniatrics and Pedaudiology, Medical University Hannover, Germany.
authors.forename: Martin
authors.initials: M
authors.lastname: Ptok
mesh_terms: D000293:Adolescent; D002872:Chromosome Deletion; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D019066:Facies; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007805:Language Development Disorders / Q000209:etiology; D008297:Male
keywords: 19p13.2 deletion; Chromosome 19p; Microdeletion; Mild mental retardation; Mild sensorineural hearing loss