title: De novo mosaic ring chromosome 18 in a child with mental retardation, epilepsy and immunological problems.
abstract: Ring chromosome 18 [r(18)] is a disorder in which one or both ends of chromosome 18 are lost and joined forming a ring-shaped figures. R(18) patients can therefore show features of 18q-, 18p- syndrome or a combination of both, depending on the size of the 18p and 18q deleted regions. The phenotype of the r(18) is characterized by developmental delay/mental retardation, typical facial dysmorphisms, major abnormalities and immunological problems. Here we report a case of de novo mosaic r(18) with a characterization by array-based comparative genomic hybridization analysis, and discuss the phenotypic correlation in r(18) also through a comparison with previously described cases of the literature.
authors.affiliation: Department of Neuroscience, Paediatric Neurology Unit, Tor Vergata University of Rome, Viale Oxford 81, 00133 Rome, Italy. a.locastro@libero.it
authors.forename: Adriana
authors.initials: A
authors.lastname: Lo-Castro
authors.forename: Nadia
authors.initials: N
authors.lastname: El-Malhany
authors.forename: Cinzia
authors.initials: C
authors.lastname: Galasso
authors.forename: Alberto
authors.initials: A
authors.lastname: Verrotti
authors.forename: Anna Maria
authors.initials: AM
authors.lastname: Nardone
authors.forename: Diana
authors.initials: D
authors.lastname: Postorivo
authors.forename: Cristina
authors.initials: C
authors.lastname: Palmieri
authors.forename: Paolo
authors.initials: P
authors.lastname: Curatolo
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D002648:Child; D025063:Chromosome Disorders / Q000235:genetics / Q000276:immunology / Q000473:pathology; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D002658:Developmental Disabilities; D004827:Epilepsy / Q000473:pathology*; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology*; D007621:Karyotyping; D009030:Mosaicism; D012303:Ring Chromosomes; D013577:Syndrome