title: A new family with extra material on proximal 15q.
abstract: Proximal extra material in the long arm of chromosome 15, has been described in individuals with different phenotypes (isolated mental retardation, multiple malformations, repeated miscarriages), and with apparently normal phenotype, in which cytogenetic analysis was invariably carried out on the basis of clinical indications. The paper describes a child with mental retardation, and his father, who both had proximal extra material in 15q. Caution is advised in the study of karyotype-phenotype correlation.
authors.affiliation: Dipartimento di Pediatria, Università di Padova, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Turolla
authors.forename: C
authors.initials: C
authors.lastname: Baccichetti
authors.forename: L
authors.initials: L
authors.lastname: Artifoni
authors.forename: E
authors.initials: E
authors.lastname: Lenzini
authors.forename: A
authors.initials: A
authors.lastname: Leszl
authors.forename: R
authors.initials: R
authors.lastname: Tenconi
mesh_terms: D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002884:Chromosomes, Human, Pair 15; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male