Selenium metabolism in animals and humans

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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.     

郯庐断裂系统与中国东部幔源岩浆成因CO_2关系的初探

中国已发现的幔源岩浆成因CO2气藏主要分布在与郯庐断裂发育密切相关的东部伸展盆地，两者关系具体表现如下：1．中国东部幔源岩浆成因CO2气藏的空间展布与郯庐断裂保持一致；2．郯庐断裂切割深度达到上地幔；3．沿郯庐断裂岩浆活动强烈，且具幔源特点；4．中国东部伸展盆地自中、新生代以来的演化受郯庐断裂带活动影响。本文主要以郯庐断裂带为主线，结合幔源岩浆成因CO2气藏典型实例，从郯庐断裂构造环境、空间格局和演化过程对幔源岩浆成因CO2的控制作用进行初步归纳和分析。     

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.