title: Supernumerary ring chromosome 8: clinical and molecular cytogenetic characterization in a case report.
abstract: We report on a 3-year-old male with developmental delay, autistic behavior, and minor abnormalities consistent with trisomy 8 syndrome whose cytogenetic analysis revealed mosaicism for a supernumerary ring chromosome (SRC). Fluorescence in situ hybridization (FISH) studies, using centromeric and yeast artificial chromosome (YAC) probes, were performed to characterize further the supernumerary chromosome. The ring origin has been detected from the short arm of chromosome 8, resulting in r(8)(p10p23.1). Moreover, uniparental disomy (UPD) using microsatellite analysis was excluded. To our knowledge a total of 25 cases, confirmed by FISH, have been reported with either supernumerary marker or ring chromosome 8. We present a detailed clinical and molecular cytogenetic characterization of this additional case in order to better define the genotype-phenotype correlation.
authors.affiliation: Medical Genetics Service, Children Hospital I.R.C.C.S. "Burlo Garofolo," Trieste, Italy.
authors.forename: Eliana
authors.initials: E
authors.lastname: Demori
authors.forename: Raffaella
authors.initials: R
authors.lastname: Devescovi
authors.forename: Daniela Gambel
authors.initials: DG
authors.lastname: Benussi
authors.forename: Silvia
authors.initials: S
authors.lastname: Dolce
authors.forename: Marco
authors.initials: M
authors.lastname: Carrozzi
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Villa
authors.forename: Jan
authors.initials: J
authors.lastname: Miertus
authors.forename: Antonio
authors.initials: A
authors.lastname: Amoroso
authors.forename: Vanna
authors.initials: V
authors.lastname: Pecile
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001321:Autistic Disorder / Q000473:pathology; D002675:Child, Preschool; D002871:Chromosome Banding; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D002658:Developmental Disabilities / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D012303:Ring Chromosomes