Schad C R, Kuffel D G, Wyatt W A, Zinsmeister A R, Jenkins R B, Dewald G W, Jalal S M
Division of Laboratory Genetics, Mayo Clinic, Rochester, Minnesota, USA.
Am J Med Genet. 1996 Dec 11;66(2):187-92. doi: 10.1002/(SICI)1096-8628(19961211)66:2<187::AID-AJMG12>3.0.CO;2-P.
Conventional X- and Y-chromatin and fluorescent in situ hybridization (FISH) analysis based on X- and Y-chromosome specific probes were conducted from buccal smear, on 15 normal males, 15 normal females, and 9 cases suspected of sex chromosome anomalies. The proportion of X- and Y-chromatin in normal females and males was 12% +/- 3% and 51.5% +/- 4.9%, respectively, by the conventional X- and Y-chromatin procedure. The CEP-X/Y analysis by FISH for the same specimens provided a proportion of 98.8% +/- 0.7% cells with XX signals in the normal females and 99.8% +/- 0.4% cells with XY signals in the normal males. The FISH method was superior to the conventional procedure in nine cases suspected of sex chromosome anomalies, including one case of mosaicism. The results of CEP-X/Y will sometimes be false; it will not detect structural anomalies of sex chromosomes, and it is not intended to detect low level mosaicism. However, the test is useful for rapid screening of sex chromosome aneuploidy at a fraction of the cost for chromosome analysis. The FISH test is also appropriate to detect tissue specific sex chromosome mosaicism, especially if it is relatively high. This FISH test is best used as an adjunct to chromosome analysis whenever possible.
对15名正常男性、15名正常女性以及9例疑似性染色体异常的病例，从口腔涂片进行了基于X和Y染色体特异性探针的传统X和Y染色质以及荧光原位杂交（FISH）分析。通过传统的X和Y染色质检测方法，正常女性和男性中X和Y染色质的比例分别为12%±3%和51.5%±4.9%。对相同样本进行FISH的CEP-X/Y分析显示，正常女性中98.8%±0.7%的细胞具有XX信号，正常男性中99.8%±0.4%的细胞具有XY信号。在9例疑似性染色体异常的病例中，包括1例嵌合体病例，FISH方法优于传统方法。CEP-X/Y的结果有时会出现错误；它无法检测性染色体的结构异常，也并非用于检测低水平的嵌合体。然而，该检测对于以染色体分析成本的一小部分快速筛查性染色体非整倍体很有用。FISH检测也适用于检测组织特异性性染色体嵌合体，特别是当嵌合体水平相对较高时。只要有可能，这种FISH检测最好用作染色体分析的辅助手段。
