位于10q23的叶酸敏感位点及其作为缺失的表达。
Folate sensitive site at 10q23 and its expression as a deletion.
作者信息
Maltby E L, Higgins S
出版信息
J Med Genet. 1987 May;24(5):299. doi: 10.1136/jmg.24.5.299.
Abstract
A patient is reported for whom initial chromosome analysis indicated 45,X/46,XX/46,XX,10q- mosaicism. The clinical findings included hypothyroidism and a low red cell folate estimation. The deleted chromosome 10 was subsequently shown to be an extreme expression of the folate sensitive heritable fragile site at 10q23, and a possible association between this and the in vivo folate status of the patient is suggested.
摘要
据报道，有一名患者，其最初的染色体分析显示为45,X/46,XX/46,XX,10q-嵌合体。临床发现包括甲状腺功能减退和红细胞叶酸估计值低。随后发现缺失的10号染色体是10q23处叶酸敏感遗传性脆性位点的极端表现，并提示这与患者体内叶酸状态之间可能存在关联。
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本文引用的文献
1
Megaloblastic anemia secondary to folate deficiency associated with hypothyroidism.继发于与甲状腺功能减退相关的叶酸缺乏的巨幼细胞贫血。
Ann Intern Med. 1968 Apr;68(4):792-805. doi: 10.7326/0003-4819-68-4-792.
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The lymphocyte as a marker of past nutritional status: persistence of abnormal lymphocyte deoxyuridine (dU) suppression test and chromosomes in patients with past deficiency of folate and vitamin B12.淋巴细胞作为既往营养状况的标志物：既往叶酸和维生素B12缺乏患者中异常淋巴细胞脱氧尿苷（dU）抑制试验及染色体的持续存在情况
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