Prenatal diagnosis of a de novo unbalanced translocation (4p + ) following in vitro fertilization

We report herein a de novo unbalanced chromosome translocation in a fetus resulting from in vitro fertilization technology. Prenatal diagnostic analysis of an amniotic fluid revealed a 46,XX,4p+ karyotype. The origin of the extra material on the short arm of chromosome 4 could not be identified by a variety of banding techniques. However, examination of fetal parts did reveal some dysmorphic features.     

甲醛对原癌基因c-myc、MDM2及抑癌基因p53的影响

为研究吸入性甲醛的毒性能否进入动物骨髓组织,引起骨髓组织基因表达发生改变,选择小鼠某些原癌基因和抑癌基因为研究对象,以SPF级balb/c雄性小鼠为材料,采用动态吸入方式染毒2周(5+2模式),染毒浓度分别为0, 0.5, 3.0mg/m3,用半定量RT-PCR方法检测不同浓度甲醛对小鼠染毒后骨髓组织细胞中c-myc、MDM2和p53基因表达的变化.结果表明,在不同浓度的甲醛暴露条件下,与空白对照组相比,小鼠骨髓组织中的c-myc基因,MDM2基因和p53基因表达均发生改变,在3.0mg/m3浓度组与空白对照组存在显著差异(P<0.05), c-myc基因,MDM2基因呈现表达上调,p53基因则呈现表达下调.吸入性甲醛的毒性能进入动物骨髓组织,并能引起骨髓组织基因表达发生改变.     

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.     

Renatal diagnosis of mosaic tetrasomy 12p/trisomy 12p by fluorescent in situ hybridization in amniotic fluid cells: A case report of pallister–killian syndrome

A prenatally detected case of a rare mosaic tetrasomy 12p/trisomy 12p is reported, presenting as the well-known accessory isochromosome 12p and a supernumerary single 12p marker in 17/24 and 6/24 clones of cultured amniotic fluid cells, respectively. The chromosomal nature of both marker chromosomes was investigated in cultured amniotic fluid cells by fluorescent in situ hybridization with various probes: the 12-centromeric probes pa12H8 and D12Z3, a whole chromosome 12 paint, and the chromosome 12p-specific paint M28. DNA analysis revealed a maternal origin of the extra 12p material. After counselling, the parents requested termination of pregnancy. Inspection and autopsy of the fetus revealed many of the dysmorphisms and internal structural abnormalities of the Pallister–Killian syndrome.     

Partial trisomy 20p resulting from recombination of a maternal pericentric inversion: case report of a prenatal diagnosis by chorionic villus sampling

We report a case of prenatal diagnosis of trisomy 20p resulting from a maternal pericentric inversion. The diagnosis was confirmed on both chorionic villi and amniotic cells. This case underlines the fact that prenatal ultrasound diagnosis of this structural anomaly is difficult. The only early sonographic feature was increased nuchal translucency. Copyright © 2006 John Wiley &amp; Sons, Ltd.     

Prenatal diagnosis and fetal pathology of partial trisomy 20p–monosomy 4p resulting from paternal translocation

Amniocentesis was performed in view of a paternal balanced chromosomal rearrangement t(4;20)(p16;p12), inv(18)(p11q11). The pregnancy was complicated by severe oligohydramnios. The fetal karyotype was unbalanced: 46XX, der(4), t(4;20)(p16;p12), inv(18) (p11q11)pat., thus resulting in partial trisomy 2Op and monosomy 4p. In addition, the amniotic fluid alpha-fetoprotein (AFP) became increasingly elevated with gestational age. The pregnancy was terminated at 25 weeks. The fetus presented with typical facial dysmorphic features, unilateral cleft lip and palate, severe renal hypoplasia, consistent with the 4p- (Wolf-Hirschhorn) syndrome.     

Radiation Effects on Blends of Poly(ε-Caprolactone) and Diatomites

Poly(p3q68258u6k38035/xxlarge949.gif" alt="epsi" align="BASELINE" BORDER="0">-caprolactone) (PCL) was blended with diatomaceous earth (diatomite) and irradiated with p3q68258u6k38035/xxlarge947.gif" alt="gamma" align="MIDDLE" BORDER="0">-rays to introduce cross-linking between PCL molecules or both components. The unwashed diatomite containing a little of a volatile component showed high efficiency of introduction of cross-linking, whereas that with no volatile component showed low efficiency of introduction of cross-linking. Elongational viscosity, melt viscosity, and modulus of PCL/diatomite blend irradiated at various doses were significantly improved. Enzymatic degradation of the PCL/diatomite blend became faster than that of the PCL, though that of the blend irradiated became slower.     

The apportionment of quadratic entropy: a useful alternative for partitioning diversity in ecological data

Many methods that study the diversity within hierarchically structured populations have been developed in genetics. Among them, the analysis of molecular variance (AMOVA) (Excoffier et al., 1992) has the advantage of including evolutionary distances between individuals. AMOVA is a special case of a far more general statistical scheme produced by Rao (1982a; 1986) and called the apportionment of quadratic entropy (APQE). It links diversity and dissimilarity and allows the decomposition of diversity according to a given hierarchy. We apply this framework to ecological data showing that APQE may be very useful for studying diversity at various spatial scales. Moreover, the quadratic entropy has a critical advantage over usual diversity indices because it takes into account differences between species. Finally, the differences that can be incorporated in APQE may be either taxonomic or functional (biological traits), which may be of critical interest for ecologists.     

微囊藻毒素LR对BRL-3A凋亡相关蛋白表达的影响

用蛋白印迹法研究了微囊藻毒素LR(MCLR)暴露时大鼠BRL-3A细胞p53、Bcl-2和Bax的表达情况.结果表明,与对照组相比,各实验组p53和Bax表达均明显升高.除了10nmol/L LR暴露1h实验组外,其它实验组Bcl-2表达均下降.在低浓度组(10nmol/L),随暴露时间的延长,p53和Bax表达逐渐升高,Bcl-2表达逐渐下降,而在中浓度(100nmol/L)和高浓度组(1000nmol/L),蛋白表达与暴露时间的一致性没有低浓度组(10nmol/L)明显.表明p53、Bcl-2和Bax在MCLR诱导的细胞凋亡中可能起重要作用.