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28例染色体异常病例的G带、Q带和R带比较。

Comparison of G-, Q-, and R-banding in 28 cases of chromosomal abnormalities.

作者信息

Verma R S, Peakman D C, Robinson A, Lubs H A

出版信息

Cytogenet Cell Genet. 1976;16(6):479-86. doi: 10.1159/000130665.

DOI:10.1159/000130665
PMID:975933
Abstract

Twenty-eight cases of chromosomal abnormalities were ascertained using G-banding. Seventeen of these had structural abnormalities of a complex nature and are discussed in detail. An independent assessment of chromosome abnormalities was carried out using sequential Q- and R-banding. In no case was there a difference in the identification of the abnormal chromosome, but in two cases a more precise localization or definition of the abnormality was obtained from the R-banded cells. In one case the initial diagnosis of the terminal deletion was altered to interstitial deletion; in the second case a break point in one chromosome involved in a reciprocal translocation was found to be in a different band by R-banding. In several others better delineation of break points or confirmation of complex abnormalities was obtained from the R-banded cells. R-banding was especially helpful in the localization of break points because of the color differentiation obtained with acridine orange. Q-banding was not found to have added any additional information. It was concluded from this study that the use of both G-banding and R-banding in complex abnormalities proved worthwhile.

摘要

使用G显带技术确定了28例染色体异常病例。其中17例具有复杂性质的结构异常,将对其进行详细讨论。使用连续的Q显带和R显带对染色体异常进行了独立评估。在任何情况下,异常染色体的识别都没有差异,但在两例中,从R显带细胞中获得了更精确的异常定位或异常定义。在一例中,最初诊断的末端缺失被改为中间缺失;在第二例中,通过R显带发现参与相互易位的一条染色体上的断裂点位于不同的带中。在其他几例中,从R显带细胞中获得了更好的断裂点描绘或复杂异常的确认。由于吖啶橙产生的颜色差异,R显带在断裂点定位方面特别有帮助。未发现Q显带增加了任何额外信息。从这项研究得出的结论是,在复杂异常中同时使用G显带和R显带被证明是值得的。

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De novo inv(17)(p11.2q21.3) in an intellectually disabled girl: appraisal of 21 inv(17) constitutional instances.一名智力残疾女孩的新发17号染色体倒位(17)(p11.2q21.3):21例17号染色体倒位染色体组实例的评估
J Genet. 2012 Aug;91(2):241-4. doi: 10.1007/s12041-012-0172-4.
2
Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis.15号染色体异常与普拉德-威利综合征:细胞遗传学分析
Hum Genet. 1984;66(4):313-34. doi: 10.1007/BF00287636.
3
Precise identification of human chromosomal abnormalities.人类染色体异常的精确识别。
Am J Hum Genet. 1979 Jan;31(1):82-3.