与46,XY,inv(7)(p13q22)核型相关的致死性成骨不全。
Lethal osteogenesis imperfecta associated with 46,XY,inv(7)(p13q22) karyotype.
作者信息
Knisely A S, Richardson A, Abuelo D, Casey S, Singer D B
机构信息
Division of Biology and Medicine, Brown University, Providence, Rhode Island 02912.
出版信息
J Med Genet. 1988 May;25(5):352-5. doi: 10.1136/jmg.25.5.352.
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.
一名22日龄死于成骨不全症（OI）并发症的婴儿，其核型为46,XY,inv(7)(p13q22)。他的母亲携带相同的倒位。倒位的一个断点位于α2(I)前胶原基因区域内。该基因的产物是I型胶原的一个组成部分，I型胶原是成骨细胞合成的主要胶原。此前尚未报道过涉及I型胶原基因位点的核型异常与成骨不全症相关。
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