title: De novo paracentric inversion 14q13q24.1 in a patient with severe involuntary movements, epilepsy, oligodontia and dysmorphic features.
abstract: We describe a 22-year-old woman with a de novo paracentric inversion of the long arm of chromosome 14 with breakpoints at q13 and q24 and associated with epilepsy, dysarthria and severe incapacitating involuntary movements present since birth. These movements were incessant when awake but absent when asleep. She had unusual facies with downward slant of palpebral fissures, epicanthi, broad philtral groove, flat malar region, large, cup shaped and low-set ears, and short neck. Her decidual and permanent dentition lacked all premolars and molars. Psychological assessment at ages 6 and 15 years showed mild mental retardation. In spite of the aggravation of the neurological symptoms no decline of mental capacity was observed. A brain MRI was normal at 19 years of age. Early on EEG showed changes compatible with partial epilepsy, and at later stages there was, contrary to expectation, only a mild background slowing. Urinary metabolic screening tests and a search for vacuolated lymphocytes were negative. Previously, four cases with a similar inversion have been described. Of these, three were familial with normal phenotype, and the fourth was de novo with severe mental retardation, microcephaly and involuntary movements. Our case is the second de novo inversion of the long arm of chromosome 14 with breakpoints at q13 and q24. The observations in the two patients suggest that this chromosomal rearrangement is associated with a congenital complex movement disorder.
authors.affiliation: Department of Medical Genetics, The Family Federation of Finland, 00100 Helsinki, Finland. maarit.peippo@vaestoliitto.fi
authors.forename: M
authors.initials: M
authors.lastname: Peippo
authors.forename: C
authors.initials: C
authors.lastname: Tengström
authors.forename: M
authors.initials: M
authors.lastname: Arvio
authors.forename: L
authors.initials: L
authors.lastname: Valanne
authors.forename: V
authors.initials: V
authors.lastname: Oksanen
authors.forename: S
authors.initials: S
authors.lastname: Kaakkola
authors.forename: J
authors.initials: J
authors.lastname: Ignatius
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D001921:Brain / Q000033:anatomy & histology; D019457:Chromosome Breakage / Q000235:genetics; D007446:Chromosome Inversion / Q000235:genetics*; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D004569:Electroencephalography; D004827:Epilepsy / Q000150:complications* / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics; D007970:Leukopenia / Q000235:genetics; D008279:Magnetic Resonance Imaging; D009069:Movement Disorders / Q000150:complications* / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics; D012729:Sex Chromosome Aberrations; D014071:Tooth Abnormalities / Q000235:genetics