A 10-year survey, 1980–1990, of prenatally diagnosed small supernumerary marker chromosomes,identified by fish analysis. Outcome and follow-up of 14 cases diagnosed in a series of 12 699 prenatal samples

A cytogenetic survey and follow-up studies were made of 14 cases with supernumerary marker chromosomes, identified among 12 699 prenatal samples, investigated at our institution over a 10-year period from 1980 to 1990. FISH (fluorescence in situ hybridization) techniques were employed to identify the chromosomal origin of the marker chromosomes. Five cases were familial, all derived from acrocentric chromosomes, and all without apparent phenotypic effects in the children. Nine cases represented de novo aberrations. In two cases (one with a marker from chromosome 14 or 22, the other with a ring-like marker derived from chromosome 17), the pregnancies continued and apparently normal babies were delivered at term, but the child with a marker derived from chromosome 17 showed slight psychomotor retardation at 2 years of age. All other pregnancies with de novo markers were terminated. In three cases, significant abnormalities were found at autopsy. One of these had an isochromosome 12p and the phenotype was consistent with Pallister-Killian syndrome. In conclusion, marker chromosome identification, as well as clinical follow-up, is essential for the purpose of improving genetic counselling.     

The ultrasonic detection of an isolated craniosynostosis

The prenatal detection of scaphocephaly, an isolated form of craniosynostosis, is presented. The diagnosis was made at 34 weeks of gestation in a woman with polyhydramnios. The ultrasound appearance and postnatal follow-up are presented.     

Duplex auditory distance assessment in a small passerine bird (Pipilo erythrophthalmus)

Eastern towhees, Pipilo erythrophthalmus, (Emberizidae, Passeriformes) in Florida estimate source sound-pressure level (SPL; i.e., sound amplitude) and often misjudge speaker distance in the field when vocalization source SPL is varied experimentally. Sound frequencies below ~3.5 kHz attenuate reliably with distance in comparison with higher sound frequencies in Florida scrub habitat. As a result, I predicted that towhees should use SPL as an auditory distance cue when they hear stimuli produced with sound frequencies below ~3.5 kHz but use another cue when they hear stimuli produced with sound frequencies above ~3.5 kHz. Subjects often misjudged speaker distance when approaching playbacks of SPL-altered stimuli produced with sound frequencies below ~3.5 kHz but rarely misjudged speaker distance when played SPL-altered stimuli produced with sound frequencies above ~3.5 kHz. I discuss the possibility that towhees employ a duplex sound localization strategy.     

The association between ‘faint-positive’ amniotic fluid acetylcholinesterase and fetal malformations

The finding of a ‘faint-positive’ acetylcholinesterase band in amniotic fluid samples of women at 15 weeks' gestation or above is associated with an increased risk of fetal abnormalities, most commonly gastroschisis. This finding warrants a targeted sonographic evaluation, in order to rule out significant fetal malformations.     

Prenatal molecular diagnosis of gaucher disease

Prenatal diagnosis of Gaucher disease, the most prevalent glycolipid storage disease, is based on a reliable enzyme assay of cells from amniocentesis or chorionic villous samples. However, this method cannot differentiate among the various forms of the disease. This report details four cases of prenatal diagnosis of Gaucher disease, three of which predate the use of molecular diagnosis. DNA mutation analysis to determine the genotype was predictive of the phenotypic status of the fetus and conformed to the genotype of an affected proband where available.     

Application of fluvial relationships to planning and design of channel modifications

Many of the environmental problems associated with channel modifications can be anticipated if known fluvial relationships are considered early in the planning process. Plan modifications or corrective measures can be employed to prevent environmental degradation and improve project performance. The fluvial system is reviewed from a geomorphic perspective. Functional fluvial relationships are described and their use in planning and design of flood channels is demonstrated.     

Perceptions of Species Abundance,Distribution, and Diversity: Lessons from Four Decades of Sampling on a Government-Managed Reserve

/ We examined data relative to species abundance, distribution, anddiversity patterns of reptiles and amphibians to determine how perceptionschange over time and with level of sampling effort. Location data werecompiled on more than one million individual captures or observations of 98species during a 44-year study period on the US Department of Energy's(DOE) Savannah River Site National Environmental Research Park (SRS-NERP) inSouth Carolina. We suggest that perceptions of herpetofaunal speciesdiversity are strongly dependent on level of effort and that land managementdecisions based on short-term data bases for some faunal groups could resultin serious errors in environmental management. We provide evidence thatacquiring information on biodiversity distribution patterns is compatiblewith multiyear spatially extensive research programs and also provide aperspective of what might be achieved if long-term, coordinated researchefforts were instituted nationwide.To conduct biotic surveys on government-managed lands, we recommend revisionsin the methods used by government agencies to acquire and report biodiversitydata. We suggest that government and industry employees engaged inbiodiversity survey efforts develop proficiency in field identification forone or more major taxonomic groups and be encouraged to measure the status ofpopulations quantitatively with consistent and reliable methodologies. Wealso suggest that widespread academic cooperation in the dissemination ofinformation on regional patterns of biodiversity could result byestablishment of a peer-reviewed, scientifically rigorous journal concernedwith status and trends of the biota of the United States. KEY WORDS: Abundance; Amphibian; Biodiversity; Distribution; Landmanagement; Reptile     

Status and Trends of Ontario's Sydenham River Ecosystem in Relation to Aquatic Species at Risk

The Sydenham River in southwestern Ontario is located in the Mixedwood Plains Ecozone, which supports the greatest diversity of flora and fauna in Canada. The river historically supported a rich aquatic community that included 80 fishes and 34 species of freshwater mussels. Fourteen aquatic species native to the river (8 fishes, 5 mussels and 1 turtle) have been designated as endangered, threatened, or of special concern by the Committee on the Status of Species at Risk in Canada (COSEWIC). A multi-agency Recovery Team was formed in 1999 to ensure the continued survival of these and other rare species in the river. The Sydenham River Recovery Team is the first in Canada to adopt an ecosystem approach to recovery planning for aquatic species. Information on land use patterns, water quality trends, the physical condition of the river, and the distributions of aquatic species at risk was synthesized to gain an understanding of the overall health of the river and its major anthropogenic stresses. Seven of the species at risk have declined in distribution or abundance, and three may be extirpated. The main threat to fishes and mussels is heavy loadings of sediment, nutrients, and possibly pesticides to the river via tile drainage and overland runoff from agricultural lands. A strategy that incorporates four overall approaches (management, stewardship, research and monitoring, and awareness and outreach) was developed to recover and protect this globally significant freshwater ecosystem.     

Estimation of Critical Loads of Acidity for Lakes in Northeastern United States and Eastern Canada

The New England Governors and Eastern Canadian Premiers (NEG/ECP) adopted the Acid Rain Action Plan in June 1998, and issued a series of action items to support its work toward a reduction of sulfur dioxide (SO₂) and nitrogen oxide (NO_x) emissions in northeastern North America. One of these action items was the preparation of an updated critical load map using data from lakes in the NEG/ECP area. Critical load maps provide a more complete index of the surface water sensitivity to acidification. Combined sulfur and nitrogen critical loads and deposition exceedances were computed using Henriksen's Steady-State Water Chemistry (SSWC) model. Results show that 28% of all 2053 lakes studied have a critical load of 20 kg/ha/year or less, making them vulnerable to acid deposition. Emission reductions, and more specifically SO₂ emission reductions have proven beneficial because critical loads were exceeded in 2002 for 12.3% of all studied lakes. Those lakes are located in the more sensitive areas where geology is carbonate-poor. Of these lakes, 2.9% will never recover even with a complete removal of SO₄ deposition. Recovery from acidification for the remaining 9.4% of the lakes will require additional emission SO₂ reductions.