Prenatal diagnosis of mosaic 4p – in a fetus with trisomy 21

Mosaicism for the Wolf-Hirschhorn syndrome, del(4)(p16), is extremely rare and has not been reported in association with a numerical chromosome abnormality. We report the prenatal diagnosis of mosaic del(4)(p16) and non-mosaic trisomy 21 in a 16-week female fetus. The pregnancy ended in spontaneous abortion at 34 weeks secondary to fetal demise. The fetus had features of both 4p – and trisomy 21.     

Prenatal diagnosis of a true mosaic trisomy 20 substantiated by demonstration of a gene dosage effect for adenosine deaminase (ADA)

Fibroblasts from a fetus with the prenatal diagnosis of mosaic trisomy 20 were cloned by dilution plating. Adenosine deaminase (ADA), a biochemical marker for chromosome 20, was assayed in trisomic clones and normal clones as control. The cytogenetic diagnosis was substantiated by demonstration of a triplex gene dosage effect for ADA in the trisomic cells.     

我国淡水水域光合产物的气候生产力探讨

根据太阳辐射在水体中的有效分布、生长季水温和浮游植物光合生态特性等因子,模拟计算了我国大陆东部淡水水域的光合生产力、气候生产力及其季节变化的地理规律。从中得知,这些水域初级产物的年气候生产力主要呈纬向分布,由南向北递减,各地范围在 1.6-24.4gC/m²·a之间,长江以南是>15.0gC/m²·a的高值区,长城以北和四川盆地为<10.0gC/m²·a的低值区,因此,在气候生产力高值区有可能充分利用气候资源优势,开发低成本的自然淡水水域渔业;而在低生产力区,受自然资源的局限其自然捕鱼量需适量控制,因地制宜。     

Quantification of human amniotic fluid constituents by high resolution proton nuclear magnetic resonance (NMR) spectroscopy

We have investigated the ability of high-resolution proton NMR spectroscopy to provide a biochemical constituent screening of human amniotic fluid (AF). Proton NMR spectra were obtained at 300 MHz on AF from patients undergoing amniocentesis in the mid-trimester. Only AF from normal pregnancies (normal fetal karyotype, normal a-fetoprotein levels, normal birth outcome) was used in this study. The AF supernatant was lyophilized and resuspended in deuterated water containing 0.1 mm phosphate buffer and 6.02 mm disodium maleate. Identification of low molecular weight compounds was confirmed by two-dimensional NMR spectra (primarily correlated spectroscopy, or COSY) and standard addition techniques. A broad profile of compounds were ‘NMR visible’ in a single proton spectrum, including creatinine, glucose, organic acids (acetate, citrate, and lactate) and several amino acids (alanine, histidine, leucine, phenylalanine, tyrosine and valine). The proton spectrum was unaffected by prior freezing/thawing of AF samples. We were able to quantify compounds by comparison with an added concentration standard (maleate) at concentrations as low as 30 μm. Good agreement with literature values based on other analytical techniques was obtained.