Lethal osteogenesis imperfecta associated with 46,XY,inv(7)(p13q22) karyotype.
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.
Knisely
A S
AS
Division of Biology and Medicine, Brown University, Providence, Rhode Island 02912.
Richardson
A
A
Abuelo
D
D
Casey
S
S
Singer
D B
DB
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
D011347:Procollagen