Bryndorf T, Kirchhoff M, Rose H, Maahr J, Gerdes T, Karhu R, Kallioniemi A, Christensen B, Lundsteen C, Philip J
Juliane Marie Center, Rigshospitalet, University of Copenhagen, Denmark.
Am J Hum Genet. 1995 Nov;57(5):1211-20.
We report the results of applying comparative genomic hybridization (CGH) in a cytogenetic service laboratory for (1) determination of the origin of extra and missing chromosomal material in intricate cases of unbalanced aberrations and (2) detection of common prenatal numerical chromosome aberrations. A total of 11 fetal samples were analyzed. Seven cases of complex unbalanced aberrations that could not be identified reliably by conventional cytogenetics were successfully resolved by CGH analysis. CGH results were validated by using FISH with chromosome-specific probes. Four cases representing common prenatal numerical aberrations (trisomy 21, 18, and 13 and monosomy X) were also successfully diagnosed by CGH. We conclude that CGH is a powerful adjunct to traditional cytogenetic techniques that makes it possible to solve clinical cases of intricate unbalanced aberrations in a single hybridization. CGH may also be a useful adjunct to screen for euchromatic involvement in marker chromosomes. Further technical development may render CGH applicable for routine aberration screening.
我们报告了在细胞遗传学服务实验室应用比较基因组杂交（CGH）的结果，用于：（1）确定复杂不平衡畸变病例中额外和缺失染色体物质的来源；（2）检测常见的产前染色体数目畸变。共分析了11份胎儿样本。7例通过传统细胞遗传学无法可靠鉴定的复杂不平衡畸变病例，通过CGH分析成功解决。CGH结果通过使用染色体特异性探针的荧光原位杂交（FISH）进行验证。4例代表常见产前数目畸变（21、18和13三体以及X单体）的病例也通过CGH成功诊断。我们得出结论，CGH是传统细胞遗传学技术的有力辅助手段，使得在一次杂交中解决复杂不平衡畸变的临床病例成为可能。CGH也可能是筛选标记染色体常染色质受累情况的有用辅助手段。进一步的技术发展可能使CGH适用于常规畸变筛查。
