title: Inv dup (8) (p21.1----22.1): further case report and a new hypothesis on the origin of the chromosome abnormality.
abstract: We report a male infant with a de novo inverted duplication of bands 8p 21.1----22.1. The clinical features up to 8 months of age and the enzyme investigations are described. A new cytogenetic hypothesis on the genesis of this rare chromosome aberration is also discussed.
authors.affiliation: Pediatrics Department, General Hospital, Conegliano, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Gorinati
authors.forename: D
authors.initials: D
authors.lastname: Caufin
authors.forename: A
authors.initials: A
authors.lastname: Minelli
authors.forename: L
authors.initials: L
authors.lastname: Memo
authors.forename: G
authors.initials: G
authors.lastname: Gaspardo
authors.forename: A
authors.initials: A
authors.lastname: Dodero
mesh_terms: D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002898:Chromosomes, Human, Pair 8; D005980:Glutathione Reductase / Q000097:blood; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D014314:Trisomy
chemical_list: D005980:Glutathione Reductase