A rare case of de novo structural rearrangement of X chromosome diagnosed by amniocentesis

A dicentric X chromosome was found in a female fetus during cytogenetic studies performed on amniotic cells. Blood samples from the parents showed normal karyotypes and the pregnancy was terminated. The mechanism for the formation of this ‘de novo’ rearrangement is discussed.     

Iniencephaly is not uniformly fatal

Iniencephaly is an uncommon, but not rare, lesion involving a fusion between the posterior occipital bone and the cervical spine. Many cases are associated with other cranio-cervical abnormalities and anencephaly, and most are associated with other structural abnormalities. The prognosis is thought to be dismal. We describe a male infant, one of twins, who was diagnosed prenatally as having iniencephaly. The child was born without complication and has grown and thrived. This is the fourth patient with long-term survival with iniencephaly. We recommend that non-directive counselling be applied when presenting the findings of iniencephaly to parents.     

关于黄土高原空间范围的讨论

长期以来,黄土高原的空间范围缺乏明确的定论。争论的焦点反映出不同学者对自然地理现象空间分布过渡性的认识和处理的差异。本文从黄土、黄土分布区、黄土高原及其毗邻的黄土分布区、黄土高原、典型黄土地貌区等几个不同层次的概念出发,探讨了划分黄土高原的客观标准,并根据野外考察和航卫片判读确定了黄土高原的空间范围。     

珠江口伶仃洋的海涂土壤资源

伶仃洋是珠江口东北部浅海湾,汇集珠江东四口门的来水,在潮间带及紧邻的潮下带(-5米以浅)形成大片海涂。土壤质地较粘重,有机质含量在1.5—2.2％之间,含盐量为0.2—1.5％,pH 为6.5—8.0,自然肥力较高,有很高的开发利用价值。因潮位带和生态条件不同,可分为 1.宜农围垦带,集中于西部浅滩,土壤含盐量较低,有机质和磷钾养分丰富,宜种水稻、甘蔗、香蕉等作物;2.水产养殖带,包括不宜围垦的潮间带和向海侧的潮下带,宜养鲻鱼、对虾、牡蛎等;3.城市、港口和工业填海造陆岸段,集中于东部浅滩。     

Cystic hygroma: Prenatal diagnosis and genetic counselling

Six cases of cystic hygromas detected during second trimester ultrasound examination are reported: 4 fetuses (67 per cent) had a 45, X karyotype, 1 fetus had trisomy 18, 1 fetus had a normal karyotype (46,XX) and at autopsy multiple anomalies were observed. In the latter case the family history suggested an autosomal recessive pattern of inheritance. In order to reach a definite diagnosis and give proper genetic counselling when a fetus is found to have cystic hygroma, a fetal karyotype as well as a family and reproductive history should be obtained.     

Is maternal alpha-fetoprotein screening still of value in a low-risk area for neural tube defects?

Estimation of maternal serum alpha-fetoprotein (AFP) was used as a screening method for the detection of neural tube defects (NTDs) in 6344 women over three years. Of 88 (1.4 per cent) who had one or more serum AFP levels equal to, or greater than, 2.5 multiples of the median (MoM) for the relevant gestational age, 43 (0.68 per cent) underwent amniocentesis. There were eight NTDs. Four of these were screened by serum AFP, and all cases of spina bifida had serum AFP levels greater than 3.0 MoM, including one small open defect which was not seen on ultrasound. The other four cases of NTD, which were not screened, were identified by ultrasound. Of 64 singleton pregnancies 32 (50 per cent) had serum AFP levels between 2.5 and 3.0 MoM, and low birthweight (⪕2500 g) occurred in 29 per cent. Because of improvements in ultrasound techniques and the apparent falling incidence of NTD, the role of serum AFP as the primary screening procedure should be regularly reviewed. Effective screening is dependent on mothers booking early.     

Prenatal diagnosis of genetic microcephaly

True microcephaly can be diagnosed at an early stage of gestation by serial measurements of fetal head growth as demonstrated by this case report in which the diagnosis of genetic microcephaly was made but termination refused. True microcephaly was evident at birth.     

生产低硫汽油的新技术

介绍了我国及欧美等国家车用汽油标准中对硫含量的规定，以及降低催化汽油硫含量的几种工艺方法，特别是新发展起来的FCC脱硫助剂、FCC脱硫催化剂和膜分离等技术。采用新的脱硫技术可以在不同程度上降低催化汽油的硫含量。适应不同的脱硫要求，为炼油厂生产低硫汽油提供了更多的技术选择。     

土霉素废水处理的研究现状和发展趋势

回顾了土霉素废水处理的国内外进展；分析了我国现有土霉素废水处理工艺存在的问题，并在此基础上提出了回收废水中草酸和土霉素，再生化处理的工艺路线。在对工艺路线中采用的方法进行分析后，指出研究高效低耗的土霉素回收工艺是其中的关键。