title: Inv(8)(p23q22) and recombinant derivative in a Sicilian family.
abstract: A family with inv8(p23q22), in which one girl with a derivative chromosome 8 showed the characteristic phenotype, is reported. Our case differs from the 32 known families with inv8(p23q22), being the first of apparently non-Hispanic descent. The anomaly may, however, have its origins in the Spanish domination of Sicily.
authors.affiliation: Pediatric Clinic, University of Catania, Italy.
authors.forename: T
authors.initials: T
authors.lastname: Mattina
authors.forename: L
authors.initials: L
authors.lastname: Conti
authors.forename: G
authors.initials: G
authors.lastname: Milone
authors.forename: S
authors.initials: S
authors.lastname: Marino
authors.forename: G
authors.initials: G
authors.lastname: Sorge
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D007446:Chromosome Inversion; D002898:Chromosomes, Human, Pair 8; D005220:Fathers; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D011995:Recombination, Genetic; D012802:Sicily