title: Lethal osteogenesis imperfecta associated with 46,XY,inv(7)(p13q22) karyotype.
abstract: An infant who died of complications of osteogenesis imperfecta (OI) at 22 days of age had a 46,XY,inv(7)(p13q22) karyotype. His mother carried the same inversion. One breakpoint of the inversion was within the region of the gene for alpha 2(I) procollagen. The product of this gene is a component of type I collagen, the principal collagen synthesised by osteoblasts. Karyotypic abnormalities involving type I collagen gene sites have not previously been reported in association with OI.
authors.affiliation: Division of Biology and Medicine, Brown University, Providence, Rhode Island 02912.
authors.forename: A S
authors.initials: AS
authors.lastname: Knisely
authors.forename: A
authors.initials: A
authors.lastname: Richardson
authors.forename: D
authors.initials: D
authors.lastname: Abuelo
authors.forename: S
authors.initials: S
authors.lastname: Casey
authors.forename: D B
authors.initials: DB
authors.lastname: Singer
mesh_terms: D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002897:Chromosomes, Human, Pair 7; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010013:Osteogenesis Imperfecta / Q000235:genetics*; D011347:Procollagen / Q000235:genetics
chemical_list: D011347:Procollagen