title: Molecular cytogenetics, RFLP analysis and clinical characterization of a de novo trisomy 10p case.
abstract: A new case of a de novo trisomy 10cen-->10pter is described. The karyotype was exactly defined by high resolution banding and FISH analysis; the chromosome aberration was of maternal meiotic origin as demonstrated by RFLP analysis. Clinical data are reported and correlated with other trisomy 10p cases from the literature. A critical review of the literature was made to define the phenotype of trisomy 10p syndrome.
authors.affiliation: Laboratorio di Citogenetica e Genetica, Ospedale di Circolo e Università dell'Insubria, Viale Borri 57, 21100, Varese, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Granata
authors.forename: D
authors.initials: D
authors.lastname: Mazzola
authors.forename: R
authors.initials: R
authors.lastname: Righi
authors.forename: E
authors.initials: E
authors.lastname: Minelli
authors.forename: A
authors.initials: A
authors.lastname: Salvatoni
authors.forename: P
authors.initials: P
authors.lastname: Baroli
authors.forename: F
authors.initials: F
authors.lastname: Maggi
authors.forename: R
authors.initials: R
authors.lastname: Casalone
mesh_terms: D000293:Adolescent; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10; D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008213:Lymphocyte Activation; D008214:Lymphocytes / Q000473:pathology; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D014314:Trisomy