Lethal osteogenesis imperfecta associated with 46,XY,inv(7)(p13q22) karyotype.

نویسندگان

  • A S Knisely
  • A Richardson
  • D Abuelo
  • S Casey
  • D B Singer
چکیده

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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عنوان ژورنال:
  • Journal of medical genetics

دوره 25 5  شماره 

صفحات  -

تاریخ انتشار 1988