Wille S, Mehraein Y
Abteilung für Klinische Genetik am Medizinischen, Philipps-Universität Marburg.
Geburtshilfe Frauenheilkd. 1993 Oct;53(10):684-8. doi: 10.1055/s-2007-1023609.
In-situ-hybridization using a chromosome-specific centromeric DNA probe on paraffin embedded tissue of placental and foetal origin allows the detection of numerical chromosome anomalies, even after several years. This may facilitate the diagnosis of late abortions in those cases in which a conventional cytogenetic examination was not performed, but the clinical picture suggests a chromosomal syndrome. We demonstrate chromosome DNA fluorescence in-situ-hybridisation (FISH) with a chromosome 18 specific (peri) centromeric repeat probe, on paraffin sections of one case with a cytogenetically proven and of three cases with a questionable Edwards-syndrome, thus confirming or excluding trisomy 18 in two of the cases.
使用针对特定染色体着丝粒DNA探针，对胎盘和胎儿来源的石蜡包埋组织进行原位杂交，即使在数年之后，也能够检测出染色体数目异常。这对于那些未进行常规细胞遗传学检查，但临床症状提示染色体综合征的晚期流产病例的诊断可能有所帮助。我们用18号染色体特异性（着丝粒周围）重复探针，对1例经细胞遗传学证实以及3例疑似爱德华兹综合征的石蜡切片进行了染色体DNA荧光原位杂交（FISH），从而在其中2例病例中证实或排除了18三体。
