Trisomy 12 mosaicism detected by mid–trimester amniocentesis

Trisomy 12 mosaicism was found in about 15 per cent of cultured amniocytes obtained from a 32-year-old white female at 17·6 weeks of gestation. Termination of pregnancy was elected and multiple tissues were obtained for chromosome analysis. Of 158 cells examined, only 1 cell in placenta was found with an extra number 12 chromosome. Pathological examination of the fetus did not reveal significant physical abnormalities. This report illustrates the difficulty of confirming trisomy 12 mosaicism which has been detected on prenatal diagnosis. The presence of trisomy 12 in one placental cell obtained from the curettage specimen suggests the possibility of confined placental mosaicism in this case.     

中国环境镉接触人群低骨密度及肾功能不全的研究

25年前,Ambio曾载文提出应警惕环境镉污染引起的健康效应.1998年在中国进行了这方面的研究,评价了因食用大米而接触镉人群的前臂骨密度(BMD)和肾功能,发现尿镉(CdU)或血镉(CdB)高的绝经后妇女及血镉(CdB)高的男性,BMD均有所下降.在CdB或CdU与肾功能不全(视黄醇结合蛋白排泄增加)之间也发现了明显的、有统计学意义的剂量-效应关系及剂量-反应关系.第一次报道了日本以外的亚洲地区镉接触人群中存在骨不良效应.本文的意义在于阐明了亚洲的环境镉接触人群中仍存在着与肾和骨(镉的比较严重的有害效应)的联合效应,也讨论了一些欧洲镉接触人群的骨效应.