Exencephaly in autosomal dominant brachydactyly syndrome

Exencephaly was diagnosed at 17 weeks in a 27-year-old primigravida with abnormalities of the hands and a family history suggestive of autosomal dominant brachydactyly and clinodactyly. In this family there was also a history of ‘anencephaly’. To our knowledge, this is the first report on the association of exencephaly and autosomal dominant brachydactyly. As the relationship between hand and cranial anomalies is well established, we suggest that this association in our case could be due to a defect in the same gene.     

SBR-COR工艺处理高浓度、多品种混合化工污水

介绍了ＳＢＲ－ ＣＯＲ 工艺处理高浓度、多品种混合化工污水的工艺流程、工作原理及闲置保养情况，详细地阐述了活性污泥生物相与运行状况的关系。实际运行表明，ＳＢＲ－ ＣＯＲ 具有重新启动所需时间短、微生物激活快，对浓度高、毒性大的化工污水具有耐冲击特性，外理效果显著。     

Triploid fetus: An important consideration in the evaluation of very high maternal serum alpha-fetoprotein

Two patients referred for evaluation of very high maternal serum alpha-fetoprotein (10–20 multiples of the median) were carrying triploid fetuses with placentas showing features of partial hydatidiform mole. The diagnosis of fetal triploidy should be considered when there is a very high maternal serum alpha-fetoprotein and no ultrasound evidence of open neural tube defect, ventral wall defect, or any other explanation. Therefore, chromosomal analysis of amniotic fluid cells in such cases is essential.     

Chorionic villus sampling: Improved method for preparation of karyotypes after short-term incubation

A method for the isolation and trypsin-Giemsa banding of metaphases obtained after short-term incubation (48 h) of cytotrophoblast cells from chorionic villus sample is described. A new slide-making instrument, developed expressly to enhance the spreading of chromosomes from metaphases released from small tissue pieces, is responsible for the increase yield of analysable metaphases in this protocol.     

Experimentally proved biosynthesis of vitamin C in a guinea pig

The Science of Nature -     

Prenatal diagnosis of pericentric inversion of chromosome no. 17 in a twin pregnancy

Although prenatal genetic diagnosis can usually provide prospective parents with information as to whether their fetus is affected with certain genetic conditions, the presence of twins and the uncertainty about the phenotype of some chromosome variations pose a major dilemma and make genetic counselling very difficult. Here, a case report of an unusual chromosome aberration (pericentric inversion of chromosome no. 17) in a twin pregnancy which was originally suspected to be monoamniotic but later proved to have two sacs was presented.