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Marc Trimborn Rolf-Dieter Wegner Holger Tönnies Nanette Sarioglu Matthias Albig Heidemarie Neitzel 《黑龙江环境通报》2006,26(3):273-276
We describe the first prenatally detected case of a small de novo interstitial duplication of chromosome 16q. This chromosomal aberration is extremely rare. Amniocentesis was indicated by advanced maternal age only. Ultrasound examinations of the foetus showed no abnormalities. Conventional and molecular cytogenetic analyses on cultured amniocytes by comparative genomic hybridisation (CGH) and fluorescence in situ hybridisation (FISH) using partial chromosome paints and a locus-specific YAC clone revealed a de novo direct duplication of the chromosomal region 16q11.2-q13 leading to a partial trisomy 16q (46,XX,dup(16)(q11.2q13)). There are only five postnatal reports of comparable duplications involving this chromosomal region. These patients presented with little or no associated dysmorphic features but with significant neurodevelopmental delay and severe behavioural problems. After genetic counselling, the parents opted for termination of pregnancy. Post-mortem examination showed slight facial dysmorphic signs, minor dysgenesis of the ovaries and an atypical outflow of the arteria thyroidea ima. Copyright © 2006 John Wiley & Sons, Ltd. 相似文献
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Bunge Michael Khknen Mika A. Rmisch Winfried Opel Matthias Vogler Susanne Walkow Fred Salkinoja-Salonen Mirja Lechner Ute 《Environmental science and pollution research international》2007,14(1):3-10
Background, Aims and Scope Sediments of the Spittelwasser creek are highly polluted with organic compounds and heavy metals due to the discharge of untreated
waste waters from the industrial region of Bitterfeld-Wolfen, Germany over the course of more than one century. However, relatively
few data have been published about the chloroorganic contamination of the sediment. This paper reports on the content of different
(chloro)organic compounds with special emphasis on polychlorinated dibenzo-p-dioxins and dibenzofurans (PCDD/F), and chlorobenzenes. Existing concepts for the remediation of Spittelwasser sediment include
the investigation of natural attenuation processes, which largely depend on the presence of an intact microbial food web.
In order to gain more insight in terms of biological activity, we analyzed the capacity of sediment microflora to degrade
organic matter by measuring the activities of extracellular hydrolytic enzymes involved in the biogeochemical cycling of carbon,
nitrogen, phosphorus and sulfur. Furthermore, the detection of physiologically active bacteria in the sediment, particularly
of those known for their capability to reductively dehalogenate organochlorine compounds, illustrates the potential for intrinsic
bioremediation processes.
Methods PCDD/F and chlorobenzenes were analyzed by gas chromatography(GC)/mass spectrometry and GC/flame ionization detection, respectively.
The activities of hydrolytic enzymes were determined from freshly sampled sediment layers using 4-methylumbelliferyl (MUF)
or 7-amino-4-methylcoumarin-conjugated model compounds and kinetic fluorescence measurements. Physiologically active bacteria
from different sediment layers were microscopically visualized by fluorescence in situ hybridization (FISH). Specific bacteria were identified by 16S rRNA gene amplification and sequencing.
Results and Discussion The PCDD/F congener profile was dominated by dibenzofurans. In addition, the presence of specific tetra and pentachlorinated
dibenzofurans supported the assumption that extensive magnesium production was one possible source for the high contamination.
A range of other chloroorganic compounds, including several isomers of chlorobenzenes, hexachlorocyclohexane and 1,1,1-trichloro-2,2-bis
(p-chloro-phenyl)ethane (DDT), was present in the sediment. Activities of extracellular hydrolytic enzymes showed a strong
decrease in those sediment layers that were characterized by high contents of absorbable organic halogen (AOX), indicating
disturbed organic matter decay. Interestingly, an abnormal increase of cellulolytic enzyme activities below the organochlorine-rich
layers was observed, possibly caused by residual cellulose from discharges of sulfite pulping wastes. FISH revealed physiologically
active bacteria in most sediment layers from the surface down to the depth of about 60 cm, including members of Desulfitobacterium (D.) and Sulfurospirillum. The presence of D. dehalogenans was confirmed by its partial 16S rRNA gene sequence.
Conclusions Results of chemical sediment analyses demonstrated high loads of organochlorine compounds, particularly of PCDD/F. Several
years after stopping the waste water discharge to Spittelwasser creek, this sediment remains a main source for pollution of
the downstream river system by way of the ongoing mobilization of sediment during high floods. As indicated by our enzyme
activity measurements, the decomposition potential for organic matter is low in organochlorine-rich sediment layers. In contrast,
the comparably higher enzyme activities in less organochlorine-polluted sediment layers as well as the presence of physiologically
active bacteria suggest a considerable potential for natural attenuation.
Recommendations and Perspectives From our data we strongly recommend to explore the degradative capacity of sediment microorganisms and the limits for in situ activity towards specific sediment pollutants in more detail. This will give a sound basis for the integration of bioremediation
approaches into general concepts to reduce the risk that permanently radiates from this highly contaminated sediment.
Submission Editor: Dr. Henner Hollert (Henner.Hollert@urz.uniheidelberg.de) 相似文献
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E. Lamla F. Boschke G. Traving G. Pfotzer H. Wolter W. Walcher H. D. Dahmen H. J. Queisser W. W. Klingbeil K. Beyermann O. Müller R. R. Ernst D. Reinen H. Muth W. Becker G. Wunsch G. I. Distler L. Jaenicke H. G. v. Schnering H. Werner F. Reiff H. Schimassek W. Höll H. K. Vasil W. F. Angermeier W. Ruppel J. C. Eccles G. Spiteller H. Oettel W. Vogell P. Brosche K. J. Hsü H. -U. Schmincke 《Die Naturwissenschaften》1975,62(3):143-143
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