title: Pure trisomy 19p syndrome in an infant with an extra ring chromosome.
abstract: We report a 12-month-old infant evaluated for severe hypotonia, psychomotor retardation, and facial dysmorphisms, including round face, high prominent forehead, downward slanted palpebral fissures, hypertelorism, short nose, chubby cheeks, long philtrum, anteverted lower lip, low-set asymmetric and dysmorphic ears. Karyotype analysis disclosed an extra mosaic ring chromosome, which included the whole 19p arm. Four additional patients with supernumerary ring 19 chromosomes have been reported, but none of them had pure trisomy 19p.
authors.affiliation: Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo e Istituto CSS-Mendel, Rome, Italy. a.novelli@css-mendel.it
authors.forename: A
authors.initials: A
authors.lastname: Novelli
authors.forename: C
authors.initials: C
authors.lastname: Ceccarini
authors.forename: L
authors.initials: L
authors.lastname: Bernardini
authors.forename: D
authors.initials: D
authors.lastname: Zuccarello
authors.forename: M C
authors.initials: MC
authors.lastname: Digilio
authors.forename: R
authors.initials: R
authors.lastname: Mingarelli
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D002871:Chromosome Banding; D002888:Chromosomes, Human, Pair 19; D005145:Face / Q000002:abnormalities*; D005260:Female; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D009123:Muscle Hypotonia / Q000235:genetics*; D012303:Ring Chromosomes; D014314:Trisomy
chemical_list: D005819:Genetic Markers