TY - JOUR T1 - Lethal osteogenesis imperfecta associated with 46,XY,inv(7)(p13q22) karyotype. JF - Journal of Medical Genetics JO - J Med Genet SP - 352 LP - 355 DO - 10.1136/jmg.25.5.352 VL - 25 IS - 5 AU - A S Knisely AU - A Richardson AU - D Abuelo AU - S Casey AU - D B Singer Y1 - 1988/05/01 UR - http://jmg.bmj.com/content/25/5/352.abstract N2 - 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. ER -