Casamassima A C, Wilmot P L, Mahoney M J, Scott R V, Shapiro L R
Department of Pediatrics, New York Medical College, Valhalla, New York.
Clin Genet. 1989 Apr;35(4):282-4. doi: 10.1111/j.1399-0004.1989.tb02944.x.
A case of prenatally diagnosed true mosaicism for trisomy 5 with a clinically normal outcome is presented. Trisomy 5 was detected in 23% of cells obtained by amniocentesis, but it was not detected from cells obtained by fetal blood sampling. While in this case the finding at amniocentesis did not reflect the status of the fetus, care must be exercised in reaching this conclusion in all cases.
本文报告了一例产前诊断为5号染色体三体真正嵌合体且临床结局正常的病例。在羊膜穿刺术获取的细胞中，23%检测到5号染色体三体，但在胎儿血样采集的细胞中未检测到。虽然在该病例中羊膜穿刺术的结果并未反映胎儿的真实情况，但在所有病例中得出此结论时都必须谨慎。
