title: Expanding the clinical and neuroradiological phenotype of 6q27 microdeletion: olfactory bulb aplasia and anosmia.
abstract: Subtelomeric deletions of chromosome 6q may result in a syndrome with brain malformations, comprising hydrocephalus and hypoplasia of the corpus callosum. Aplasia of the olfactory bulbs (OB) or anosmia has not been described in this syndrome. We describe a 3-year-old girl and a 25-year-old man with subtelomere 6q deletions. Both patients had aplastic OB and hydrocephalus. Subtelomeric 6q deletions might be underdiagnosed as anosmia can be the only symptom.
authors: Neuroradiology, University Hospital Carl Gustav Carus at the Technische Universität Dresden, Germany. johannes.gerber@uniklinikum-dresden.de
authors: J C
authors: JC
authors: Gerber
authors: T M
authors: TM
authors: Neuhann
authors: N
authors: N
authors: Tyshchenko
authors: M
authors: M
authors: Smitka
authors: K
authors: K
authors: Hackmann
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D061085:Agenesis of Corpus Callosum; D002675:Child, Preschool; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis / Q000235:genetics; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D000857:Olfaction Disorders / Q000175:diagnosis / Q000235:genetics*; D009830:Olfactory Bulb / Q000002:abnormalities*; D013577:Syndrome