核仁组成区（NOR）和射频消融（RFA）带型分析在产前诊断中的应用：一例病例报告
The usefulness of NOR and RFA banding in prenatal diagnosis: a case report.
作者信息
Sciorra L J, Rajendra B, Cummings E, Ekblom L, Lee M
出版信息
Am J Med Genet. 1981;10(2):147-9. doi: 10.1002/ajmg.1320100208.
Prenatal chromosome analysis of amniotic cells showed a male fetus to carry an unusual marker D chromosome containing extra genetic material on the short arm, which could be interpreted as a possible t(D;G) or t(D;Fq) unbalanced translocation using non-branded preparations or a routine GTG band method. Analysis of this marker by NOR and RFA banding and parental chromosome studies showed the marker to be an unusual variant of the satellited area of chromosome 15, with no associated phenotypic anomalies. The usefulness of NOR and RFA banding as aids in chromosome identification in prenatal diagnosis is discussed.
羊水细胞的产前染色体分析显示，一名男性胎儿携带一条异常的标记D染色体，其短臂上含有额外的遗传物质，使用非特异性制片或常规GTG显带方法，可将其解释为可能的不平衡易位t(D;G)或t(D;Fq)。通过核仁组织区（NOR）和反向荧光原位杂交（RFA）显带对该标记进行分析以及亲代染色体研究表明，该标记是15号染色体随体区域的一种异常变体，无相关的表型异常。本文讨论了NOR和RFA显带在产前诊断中辅助染色体鉴定的作用。
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