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Lethal osteogenesis imperfecta associated with 46,XY,inv(7)(p13q22) karyotype.
  1. A S Knisely,
  2. A Richardson,
  3. D Abuelo,
  4. S Casey,
  5. D B Singer
  1. Division of Biology and Medicine, Brown University, Providence, Rhode Island 02912.


    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.

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