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Case Reports
. 1988 May;25(5):352-5.
doi: 10.1136/jmg.25.5.352.

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

A S Knisely  1 , A Richardson, D Abuelo, S Casey, D B Singer
Affiliations
Case Reports

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

A S Knisely et al. J Med Genet. 1988 May.

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.

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