一名谷胱甘肽还原酶活性增加的儿童出现8号染色体短臂12区至23.1区的反向串联重复。
Inverted tandem duplication of 8p12----p23.1 in a child with increased activity of glutathione reductase.
作者信息
Nevin N C, Morrison P J, Jones J, Reid M M
机构信息
Department of Medical Genetics, Queen's University of Belfast, Belfast City Hospital.
出版信息
J Med Genet. 1990 Feb;27(2):135-6. doi: 10.1136/jmg.27.2.135.
Abstract
At least 16 cases of inversion tandem duplications of the short arm of chromosome 8 have been reported. Structural rearrangements of chromosome 8 have made it possible to localise the gene for glutathione reductase (GSR) to 8p21.1. We report here on a 16 month old boy with mental retardation with partial trisomy 8 owing to a de novo inv dup(8)(p12----p23.1).
摘要
至少已有16例8号染色体短臂串联重复倒位的病例被报道。8号染色体的结构重排使得将谷胱甘肽还原酶（GSR）基因定位到8p21.1成为可能。我们在此报告一名16个月大的患有智力障碍的男孩，因其发生了一个新发的inv dup(8)(p12----p23.1)而导致8号染色体部分三体。
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