Prenatal diagnosis of partial monosomy 18p(18p11.2→pter) and trisomy 21q(21q22.3→qter) with alobar holoprosencephaly and premaxillary agenesis

A prenatal diagnosis of partial monosomy 18p(18p11.2→pter) and trisomy 21q(21q22.3→qter) in a fetus with alobar holoprosencephaly (HPE) and premaxillary agenesis (PMA) but without the classical Down syndrome phenotype is reported. A 27-year-old primigravida woman was referred for genetic counselling at 21 weeks' gestation due to sonographic findings of craniofacial abnormalities. Level II ultrasonograms manifested alobar HPE and median orofacial cleft. Cytogenetic analysis and fluorescence in situ hybridization (FISH) on cells obtained from amniocentesis revealed partial monosomy 18p and a cryptic duplication of 21q,46,XY,der(18)t(18;21)(p11.2;q22.3), resulting from a maternal t(18;21) reciprocal translocation. The breakpoints were ascertained by molecular genetic analysis. The pregnancy was terminated. Autopsy showed alobar HPE with PMA, pituitary dysplasia, clinodactyly and classical 18p deletion phenotype but without the presence of major typical phenotypic features of Down syndrome. The phenotype of this antenatally diagnosed case is compared with those observed in six previously reported cases with monosomy 18p due to 18;21 translocation. The present study is the first report of concomitant deletion of HPE critical region of chromosome 18p11.3 and cryptic duplication of a small segment of distal chromosome 21q22.3 outside Down syndrome critical region. The present study shows that cytogenetic analyses are important in detecting chromosomal aberrations in pregnancies with prenatally detected craniofacial abnormalities, and adjunctive molecular investigations are useful in elucidating the genetic pathogenesis of dysmorphism. Copyright © 2001 John Wiley & Sons, Ltd.     

Effect of air-drying and oven-drying treatment on Cr(VI) content and Cr bond forms in soil

Air-drying and oven-drying are pretreatment processes often used before testing and analyzing various soil characteristics in the laboratory. This study selected three kinds of soil, including red soil, entisol, and alluvial soil, and examined the variation of the Cr(VI) content and Cr bond forms in these soils during air-drying and oven-drying. The results show that when the soil is air-dried in natural environment, the Cr(VI) content decreases with air-drying time. On day 10 of air-drying, the Cr(VI) content in these soils is 22.8～47.9 % of the initial value. When the soil is oven-dried, the Cr(VI) concentration decays faster; on day 8, the Cr(VI) is no longer detected in these soil samples. When the Cr(VI)-contaminated soil is treated by air-drying and oven-drying, the Cr bond form converts into a more stable form. After oven-drying, the Cr mainly exists in Fe–Mn oxide form, organic bond form, and residual form. The air-drying and oven-drying pretreatment processes of soil reduce the Cr(VI) content and stabilize the Cr bond form. If the laboratory analytic results are applied to risk analysis or remediation strategy planning for chromium-contaminated soil, the toxicity, bioavailability, and mobility of Cr in soil may be underrated.     

Determination and distribution characteristics of degradation products of nonylphenol polyethoxylates in the rivers of Taiwan

Concentrations of degradation products of nonylphenol polyethoxylates (NPEOs) were analyzed in river water samples in order to determine the distribution characteristic of these alkylphenolic compounds in 18 major rivers of Taiwan. The degradation products of NPEOs were detected in all river samples, with the dicarboxylates alkylphenolic degradation products (CAPEC) being detected most frequently and at the highest concentrations. Concentrations of NP and NP1EO in rivers ranged from n.d. to 5.1 μg l⁻¹ and n.d. to 0.5 μg l⁻¹, respectively. The total concentrations of shortened carboxylates (i.e., NP1EC + NP2EC + NP3EC) and dicarboxylates alkylphenolic degradation products (CAP1EC + CAP2EC) ranged from n.d. to 63.6 μg l⁻¹ and n.d. to 94.6 μg l⁻¹, respectively. Concentrations of NP2EC, NP3EC and all CAPEC residues were determined semi-quantitatively by comparing with the internal standard. Significantly higher concentrations of CAPEC residues were detected in the river waters as compared to those of NP, NP1EO and NPEC degradation products and the average proportions of these compounds in the samples of the rivers were as follows: NP + NP1EO was 5 ± 2.5%, total NPEC was 25 ± 12%, and total CAPEC was 70 ± 12%. The high concentration ratios of CAPEC/NPEC illustrate that aerobic biodegradation plays a main route in the fate of NPEO in the rivers of Taiwan.     

Occurrence and seasonal variation of alkylphenols in marine organisms from the coast of Taiwan

The occurrence and distribution of alkylphenols (APs, i.e., 4-tert-octylphenol (4-t-OP) and 4-nonlyphenol isomers (4-NP)) in oysters (Crassostrea gigas), snails (Thais clavigera), coastal water and coastal sediments of the western coast of southern Taiwan are investigated. Alkylphenols were present in all matrices of interest: in water, ranging from 61 to 370 ng/l, in sediments, ranging from 27 to 190 ng/g, and in biota samples (i.e., oyster and snail), ranging from 20 to 5190 ng/g. Statistical analysis indicated that the probability distribution of most determined concentrations in oyster and snail samples was log-normal distribution. The bioaccumulation of APs resulted in a seasonal variation with respect to their compositions and concentrations in oyster and snail samples. For oysters, concentrations of APs in winter exceeded those in summer. In contrast, those in snails in summer exceeded those in winter. Estimated biomagnification factors of APs from snails to oysters ranged from 1.4 to 4.3 in summer, and 0.5 to 0.8 in winter on the dry weight basis. The results suggested that seasonally mediated physiological changes, such as dilution caused by growth, biotransformation and metabolism, may affect the bioaccumulation of APs in according to season and organism.     

Prenatal diagnosis of de novo distal 11q deletion associated with sonographic findings of unilateral duplex renal system,pyelectasis and orofacial clefts

In utero diagnosis of de novo distal 11q deletion associated with renal and orofacial malformations has not been previously described. We present a 35-year-old pregnant woman with prenatal sonographic findings of a unilateral duplex renal system, pyelectasis and orofacial clefts at 20 weeks' gestation. Both genetic amniocentesis and postnatal cytogenetic analysis revealed de novo 46,XX,del(11)(q23). After birth, the fetus manifested a dysmorphic phenotype correlated with del(11q) syndrome. Genetic marker analysis showed a paternally derived distal deletion of chromosome 11q and a breakpoint centromeric to D11S1341. The present case represents the earliest prenatal diagnosis of a duplex renal system, pyelectasis and an additional feature of orofacial clefts associated with distal 11q deletion. Prenatal sonographic detection of a duplex renal system, pyelectasis and orofacial clefts should warrant a careful assessment of fetal anatomy and prompt cytogenetic analysis looking for chromosomal aberrations. Copyright © 2001 John Wiley & Sons, Ltd.