title: Duplication of the terminal band of the long arm of chromosome 7: a new case.
abstract: We report on a new case of de novo duplication of the terminal band of chromosome 7, 46, XX dup(7) (q36 > qter), defined by fluorescence in situ hybridization (FISH), which cause a recognizable phenotype consisting of macrocephaly, prominent frontal bossing, slight developmental delay.
authors.affiliation: Dipartimento di Scienze Biomediche e Biotecnologie, Universita di Cagliari, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Boccone
authors.forename: D
authors.initials: D
authors.lastname: Gasperini
authors.forename: G
authors.initials: G
authors.lastname: Pilloni
authors.forename: A
authors.initials: A
authors.lastname: Cao
authors.forename: A
authors.initials: A
authors.lastname: Nucaro
mesh_terms: D002648:Child; D002871:Chromosome Banding / Q000379:methods*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics; D005260:Female; D020440:Gene Duplication; D006801:Humans; D010641:Phenotype; D012886:Skull / Q000002:abnormalities