Levy-Mozziconacci A, Piquet C, Scheiner C, Adrai J, Potier A, Pelissier M C, Philip N
Centre de Diagnostic Prénatal, Hopital Timone Enfant, Marseille, France.
Prenat Diagn. 1996 Dec;16(12):1156-9. doi: 10.1002/(SICI)1097-0223(199612)16:12<1156::AID-PD13>3.0.CO;2-K.
A case of false-negative discrepancy between results of chorionic villi (direct preparation) and those of fetal tissue with an isochromosome 18q [i(18q)] in amniotic cells and fetal blood is reported. Fluorescence in situ hybridization (FISH) confirmed this uncommon chromosomal rearrangement. The fetus showed cyclopia and multiple congenital anomalies which have never been reported in cases of i(18q).
报道了1例绒毛膜绒毛（直接制片）结果与羊水细胞和胎儿血液中存在18号染色体等臂染色体[i(18q)]的胎儿组织结果之间出现假阴性差异的病例。荧光原位杂交（FISH）证实了这种罕见的染色体重排。该胎儿表现出独眼畸形和多种先天性异常，这些在i(18q)病例中从未有过报道。
