Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 40
Filter
1.
Appl Opt ; 56(18): 5274-5294, 2017 Jun 20.
Article in English | MEDLINE | ID: mdl-29047582

ABSTRACT

The Cassini spacecraft orbiting Saturn carries the composite infrared spectrometer (CIRS) designed to study thermal emission from Saturn and its rings and moons. CIRS, a Fourier transform spectrometer, is an indispensable part of the payload providing unique measurements and important synergies with the other instruments. It takes full advantage of Cassini's 13-year-long mission and surpasses the capabilities of previous spectrometers on Voyager 1 and 2. The instrument, consisting of two interferometers sharing a telescope and a scan mechanism, covers over a factor of 100 in wavelength in the mid and far infrared. It is used to study temperature, composition, structure, and dynamics of the atmospheres of Jupiter, Saturn, and Titan, the rings of Saturn, and surfaces of the icy moons. CIRS has returned a large volume of scientific results, the culmination of over 30 years of instrument development, operation, data calibration, and analysis. As Cassini and CIRS reach the end of their mission in 2017, we expect that archived spectra will be used by scientists for many years to come.

3.
Appl Radiat Isot ; 110: 224-229, 2016 Apr.
Article in English | MEDLINE | ID: mdl-26749562

ABSTRACT

The use of neutrons for cargo interrogation has the potential to drastically improve threat detection. Previous research has focussed on the production of (24)Na, based on the isotopes produced in pharmaceuticals and medical devices. For both the total activity and the ingestion dose we show that a variety of isotopes contribute and that (24)Na is only dominant under certain conditions. The composition of the foods has a strong influence on the resulting activity and ingestion dose suggesting that the pharmaceuticals and medical devices considered initially are not a viable analogue for foodstuffs. There is an energy dependence to the isotopes produced due to the cross-sections of different reactions varying with neutron energy. We show that this results in different isotopes dominating the ingestion dose at different energies, which has not been considered in the previous literature.


Subject(s)
Fast Neutrons/adverse effects , Food Irradiation/adverse effects , Radioisotopes/analysis , Computer Simulation , Crime/prevention & control , Food/radiation effects , Food Analysis , Humans , Sodium Radioisotopes/adverse effects , Sodium Radioisotopes/analysis , Terrorism/prevention & control
4.
J Radiol Prot ; 35(3): 507-15, 2015 Sep.
Article in English | MEDLINE | ID: mdl-26083976

ABSTRACT

In recent years there has been growing interest in the use of neutron scanning techniques for security. Neutron techniques with a range of energy spectra including thermal, white and fast neutrons have been shown to work in different scenarios. As international interest in neutron scanning increases the risk of activating cargo, especially foodstuffs must be considered. There has been a limited amount of research into the activation of foods by neutron beams and we have sought to improve the amount of information available. In this paper we show that for three important metrics; activity, ingestion dose and Time to Background there is a strong dependence on the food being irradiated and a weak dependence on the energy of irradiation. Previous studies into activation used results based on irradiation of pharmaceuticals as the basis for research into activation of food. The earlier work reports that (24)Na production is the dominant threat which motivated the search for (24)Na(n,γ)(24)Na in highly salted foods. We show that (42)K can be more significant than (24)Na in low sodium foods such as Bananas and Potatoes.


Subject(s)
Commerce , Food Safety , Food/radiation effects , Neutrons , Cacao/radiation effects , Cheese/radiation effects , Food Contamination, Radioactive/prevention & control , Monte Carlo Method , Musa/radiation effects , Oryza/radiation effects , Prunus dulcis/radiation effects , Radiation Dosage , Risk , Solanum tuberosum/radiation effects , Zea mays/radiation effects
5.
Appl Microbiol Biotechnol ; 63(4): 422-30, 2004 Jan.
Article in English | MEDLINE | ID: mdl-12690417

ABSTRACT

Experiments were performed to determine the effect of Aspergillus oryzae (AO) fermentation extract on zoospore development in the rumen fungus Neocallimastix frontalis EB 188. Powdered product, or liquid extract prepared from such powder, was added at the recommended value for supplementation in dairy cattle. Stationary and stirred cultures were periodically sampled and assayed for extracellular and intracellular protein and enzymes, gas production, zoospore production and maturation, and carbon source utilization. Soluble extract increased fungal physiology when grown in stirred vessels or stationary cultures. Treated cultures produced higher levels of enzymes (nearly double). Mobile zoospores matured into germination entities more rapidly in treated cultures, and when powdered product was used, nearly 3 times more motile zoospores were produced at 56 h of fungal growth. Levels of the intracellular enzyme malate dehydrogenase increased by 6-fold in the presence of powdered product. Product wheat bran carrier used as soluble extract or powder had very little effect on fungal cultures. Medium cellulose was completely hydrolyzed in all cultures but this occurred earlier in those containing AO treatment.


Subject(s)
Aspergillus oryzae/metabolism , Dietary Supplements , Neocallimastix/growth & development , Spores, Fungal/growth & development , Amylases/metabolism , Animals , Carbohydrate Metabolism , Cattle , Cellulase/biosynthesis , Cellulase/metabolism , Enzymes/metabolism , Fatty Acids, Volatile/analysis , Fermentation , Fungal Proteins/analysis , L-Lactate Dehydrogenase/metabolism , Malate Dehydrogenase/metabolism , Neocallimastix/chemistry , Neocallimastix/enzymology , Rumen/microbiology , Spores, Fungal/chemistry , beta-Glucosidase/metabolism
6.
Appl Microbiol Biotechnol ; 63(4): 431-7, 2004 Jan.
Article in English | MEDLINE | ID: mdl-12690418

ABSTRACT

The effect of a commercial Aspergillus oryzae fermentation extract on the utilization of carbon source and zoospore production by the rumen fungus Neocallimastix frontalis EB 188 was determined. In addition, the composition of a soluble extract prepared from the commercial product was analyzed. This extract was added to N. frontalis EB 188 cultures grown on a variety of substrates and periodically assayed for protein, enzymes, zoospore production, and carbon source utilization. The powdered product contained 93% dry matter, more than 3,000 A. oryzaespores per gram, and did not contain strong buffers or high concentrations of salt. Measurable concentrations of DNA, protein, carbohydrate and several enzymes including cellulase and amylase were also found. Soluble extract increased fungal physiology and treated cultures produced significantly higher levels of supernatant protein and enzymes including amylase, cellulase and beta-glucosidase. The fungal response depended on culture carbon source. However, culture zoospore production was increased regardless of substrate provided. Culture utilization of glucose was more rapid in treated cultures, yet high levels of the extract greatly inhibited glucose utilization.


Subject(s)
Aspergillus oryzae/metabolism , Dietary Supplements , Neocallimastix/growth & development , Neocallimastix/metabolism , Spores, Fungal/growth & development , Amylases/metabolism , Amylases/physiology , Animals , Carbohydrate Metabolism , Cattle , Cellulase/biosynthesis , Cellulose/metabolism , Enzymes/metabolism , Fungal Proteins/metabolism , Glucose/metabolism , Neocallimastix/enzymology , Rumen/microbiology , Starch/metabolism , beta-Glucosidase/metabolism
7.
Science ; 293(5537): 2084-7, 2001 Sep 14.
Article in English | MEDLINE | ID: mdl-11557891

ABSTRACT

Transcription factor TFIID, composed of TBP and TAFII subunits, is a central component of the RNA polymerase II machinery. Here, we report that the tissue-selective TAFII105 subunit of TFIID is essential for proper development and function of the mouse ovary. Female mice lacking TAFII105 are viable but infertile because of a defect in folliculogenesis correlating with restricted expression of TAFII105 in the granulosa cells of the ovarian follicle. Gene expression profiling has uncovered a defective inhibin-activin signaling pathway in TAFII105-deficient ovaries. Together, these studies suggest that TAFII105 mediates the transcription of a subset of genes required for proper folliculogenesis in the ovary and establishes TAFII105 as a cell type-specific component of the mammalian transcriptional machinery.


Subject(s)
DNA-Binding Proteins/metabolism , Granulosa Cells/physiology , Ovarian Follicle/growth & development , Ovary/physiology , TATA-Binding Protein Associated Factors , Transcription Factors/metabolism , Transcription, Genetic , Animals , DNA-Binding Proteins/genetics , Down-Regulation , Female , Gene Expression Profiling , Gene Expression Regulation, Developmental , Granulosa Cells/metabolism , In Situ Hybridization , Infertility, Female , Male , Mice , Mice, Knockout , Oligonucleotide Array Sequence Analysis , Organ Size , Organ Specificity , Ovary/cytology , Ovary/growth & development , Ovary/metabolism , Ovulation , Protein Subunits , Signal Transduction , Transcription Factor TFIID , Transcription Factors/genetics , Transcription Factors, TFII/metabolism
8.
IEEE Trans Biomed Eng ; 47(7): 902-10, 2000 Jul.
Article in English | MEDLINE | ID: mdl-10916261

ABSTRACT

The control interface is one of the most critical components of the electric-powered wheelchair (EPW). The control interface must accommodate the user's limitations and maximize the user's abilities. This study extended Fitts' Law for target-acquisition to a continuously updated target. The extended Fitts' Law was used to examine EPW driving with a standard position sensing joystick and a prototype isometric joystick (IJ). The extended Fitts' Law provides insight into the difficulty of performing target-acquisition tasks with an EPW. The test results showed significant differences (p < 0.05) among the two types of joysticks for selected measures of information processing capacity, movement time, root-mean-square-error, and average velocity while performing turning maneuvers. The mean values indicate that the IJ may provide superior turning performance.


Subject(s)
Wheelchairs , Algorithms , Biomedical Engineering , Electricity , Equipment Design , Humans
9.
Gene ; 242(1-2): 1-13, 2000 Jan 25.
Article in English | MEDLINE | ID: mdl-10721692

ABSTRACT

Synthesis of messenger RNA by RNA polymerase II requires the combined activities of more than 70 polypeptides. Coordinating the interaction of these proteins is the basal transcription factor TFIID, which recognizes the core promoter and supplies a scaffolding upon which the rest of the transcriptional machinery can assemble. A multisubunit complex, TFIID consists of the TATA-binding protein (TBP) and several TBP-associated factors (TAFs), whose primary sequences are well-conserved from yeast to humans. Data from reconstituted cell-free transcription systems and binary interaction assays suggest that the TAF subunits can function as promoter-recognition factors, as coactivators capable of transducing signals from enhancer-bound activators to the basal machinery, and even as enzymatic modifiers of other proteins. Whether TAFs function similarly in vivo, however, has been an open question. Initial characterization of yeast bearing mutations in particular TAFs seemingly indicated that, unlike the situation in vitro, TAFs played only a minor role in transcriptional regulation in vivo. However, reconsideration of this data in light of more recent results from yeast and other organisms reveals considerable convergence between the models derived from in vitro experiments and those derived from in vivo studies. In particular, there is an emerging consensus that TAFs represent one of several classes of coactivators that participate in transcriptional activation in vivo.


Subject(s)
DNA-Binding Proteins/physiology , Transcription Factors, TFII/physiology , Transcription Factors/physiology , Animals , Humans , Models, Biological , Promoter Regions, Genetic/genetics , Saccharomyces cerevisiae/genetics , TATA-Box Binding Protein , Transcription Factor TFIID , Transcriptional Activation
11.
Cell ; 89(5): 773-9, 1997 May 30.
Article in English | MEDLINE | ID: mdl-9182765

ABSTRACT

Cleidocranial dysplasia (CCD) is an autosomal-dominant condition characterized by hypoplasia/aplasia of clavicles, patent fontanelles, supernumerary teeth, short stature, and other changes in skeletal patterning and growth. In some families, the phenotype segregates with deletions resulting in heterozygous loss of CBFA1, a member of the runt family of transcription factors. In other families, insertion, deletion, and missense mutations lead to translational stop codons in the DNA binding domain or in the C-terminal transactivating region. In-frame expansion of a polyalanine stretch segregates in an affected family with brachydactyly and minor clinical findings of CCD. We conclude that CBFA1 mutations cause CCD and that heterozygous loss of function is sufficient to produce the disorder.


Subject(s)
Chromosomes, Human, Pair 6 , Cleidocranial Dysplasia/genetics , Neoplasm Proteins , Transcription Factors/genetics , Alleles , Amino Acid Sequence , Animals , Base Sequence , Core Binding Factor Alpha 1 Subunit , Gene Deletion , Humans , Mice , Molecular Sequence Data
12.
Clin Chem ; 43(4): 675-9, 1997 Apr.
Article in English | MEDLINE | ID: mdl-9105272

ABSTRACT

We describe positive interference with the ion-selective electrode determination of lithium (Lytening 2Z analyzer; Dade) when blood is collected in a 10-mL plain red-top plastic Vacutainer Plus Tube (Becton Dickinson) containing a silica clot activator and silicone surfactant (prod. no. 36-7820). We evaluated both the original tube (blue-labeled) and a new tube formulated to contain less silicone surfactant (striped-labeled). We determined that the interference is from either the silica clot activator or the silicone surfactant used to fix the silica to the tube and is inversely related to the volume of blood in the tube. Long-term intermittent exposure of the Li ion-selective electrode to the silica clot activator or surfactant results in decreased Li values--in terms of both the positive interference by the silica clot activator or surfactant and the actual Li determinations. Moreover, this long-term interference with the Li ion-selective electrode for patient's specimens is undetected by the Dade control material (QCLytes).


Subject(s)
Blood Specimen Collection/instrumentation , Ion-Selective Electrodes , Lithium/blood , Silicon Dioxide , Blood Coagulation/drug effects , False Positive Reactions , Humans , Hydrogen-Ion Concentration , Quality Control , Silicones , Surface-Active Agents
13.
Neurogenetics ; 1(2): 95-102, 1997 Sep.
Article in English | MEDLINE | ID: mdl-10732810

ABSTRACT

We examined 11 Caucasian pedigrees with autosomal dominant 'uncomplicated' familial spastic paraplegia (SPG) for linkage to the previously identified loci on chromosomes 2p, 14q and 15q. Chromosome 15q was excluded for all families. Five families showed evidence for linkage to chromosome 2p, one to chromosome 14q, and five families remained indeterminate. Homogeneity analysis of combined chromosome 2p and 14q data gave no evidence for a fourth as yet unidentified SPG locus. Recombination events reduced the chromosome 2p minimum candidate region (MCR) to a 3 cM interval between D2S352 and D2S367 and supported the previously reported 7 cM MCR for chromosome 14q. Age of onset (AO) was highly variable, indicating that subtypes of SPG are more appropriately defined on a genetic basis than by AO. Comparison of AO in parent-child pairs was suggestive of anticipation, with a median difference of 9.0 years (p<0.0001).


Subject(s)
Chromosomes, Human, Pair 2/genetics , Genes, Dominant , Paraplegia/genetics , Adolescent , Adult , Age of Onset , Aged , Child , Child, Preschool , Chromosome Mapping , Chromosomes, Human, Pair 14/genetics , DNA/genetics , Family Health , Female , Genetic Heterogeneity , Genetic Linkage , Genotype , Humans , Infant , Lod Score , Male , Microsatellite Repeats , Middle Aged , Pedigree
14.
Gene ; 172(2): 199-205, 1996 Jun 26.
Article in English | MEDLINE | ID: mdl-8682303

ABSTRACT

From libraries made from activated mouse T lymphocytes, we have isolated cDNAs encoding Wnt-10B, a new member of the Wnt family of developmental control genes. This protein appears to be the mammalian orthologue of Wnt-10B, first identified in several non-mammalian vertebrates and recently in mouse. The mRNA expression pattern of mouse Wnt-10B indicates that it is induced following activation of helper T cells, but is also expressed in a variety of other tissues and cells of fetal or adult origin. 93 bp at the 5' end of the cDNA clone are identical to sequences previously reported as 3' flanking genomic DNA adjacent to a mouse mammary tumor virus (MMTV) provirus in the MMTV-induced BR6 mammary tumor, W26. Sequence analysis of tumor-derived genomic DNA confirms that the entire Wnt-10B gene is immediately adjacent to the provirus, suggesting that MMTV integration drives transcription of Wnt-10B, possibly contributing to the oncogenic process. Consistent with this idea is the detection of hybrid MMTV-Wnt-10B transcripts in BR6 tumor cells. T cells which produce abundant Wnt-10B mRNA were also found to produce protein.


Subject(s)
Mammary Neoplasms, Animal/genetics , Oncogenes , Proto-Oncogene Proteins/genetics , Th1 Cells/metabolism , Th2 Cells/metabolism , Amino Acid Sequence , Animals , Base Sequence , Cell Line , Clone Cells , Gene Expression , Humans , Mammary Tumor Virus, Mouse/genetics , Mice , Molecular Sequence Data , Polymerase Chain Reaction , Promoter Regions, Genetic , Proviruses/genetics , Recombinant Fusion Proteins/genetics , Th1 Cells/cytology , Th2 Cells/cytology
15.
J Rehabil Res Dev ; 33(1): 45-55, 1996 Feb.
Article in English | MEDLINE | ID: mdl-8868417

ABSTRACT

The proper selection of a wheelchair requires making several critical decisions, not the least of which is what type of wheelchair is appropriate. The International Organization for Standards (ISO) continues to develop and refine wheelchair standards. Standards allow the objective comparison of products from various sources, permitting consumers or clinicians to assess wheelchairs with which they are not familiar by comparing test results. This study consisted of three components: 1) the comparison of fatigue test results with a planar ANSI/RESNA test dummy to a HERL contoured test dummy; 2) the comparison of fatigue test results for common depot versus common rehabilitation manual wheelchairs; and 3) the comparison of fatigue test results for manual rehabilitation wheelchairs with solid 8-inch casters versus those with pneumatic 8-inch casters. Rehabilitation wheelchairs lasted on average 13.2 times longer than the depot wheelchairs. Both types, tested with the standard ISO-ANSI/RESNA dummy, lasted on average 2.1 times longer than those wheelchairs tested using the contoured dummy. The three rehabilitation wheelchairs equipped with 8-inch pneumatic casters lasted on average 3.2 times longer than the 6 rehabilitation wheelchairs equipped with solid 8-inch casters. The depot wheelchairs cost about 3.4 times as much to operate per cycle or per meter than the rehabilitation wheelchairs. The rehabilitation wheelchairs tended to experience component failures, while the depot wheelchairs tended to experience frame failures. Our testing indicates that the tests in the ISO-ANSI/RESNA standards can relate design features to fatigue test results and durability. Rehabilitation wheelchairs tend to use higher quality materials and better manufacturing practices, and they provide greater mobility for wheelchair users. Purchasers and prescribers of wheelchairs should consider the life-cycle cost and not just the purchase price for wheelchairs.


Subject(s)
Manuals as Topic , Rehabilitation/instrumentation , Wheelchairs/economics , Wheelchairs/standards , Analysis of Variance , Equipment Safety , Humans , Rehabilitation/economics
16.
J Rehabil Res Dev ; 32(3): 255-63, 1995 Oct.
Article in English | MEDLINE | ID: mdl-8592297

ABSTRACT

The range of a power wheelchair depends on many factors including: battery type, battery state, wheelchair/rider weight, terrain, the efficiency of the drive train, and driving behavior. The purpose of this study was to evaluate the feasibility of three methods of estimating power wheelchair range. Another significant purpose was to compare the current draw on pavement to current draw on an International Standards Organization (ISO) Double Drum tester at one m/sec. Tests were performed on seven different power wheelchairs unloaded, and loaded with an ISO 100 kg test dummy. Each chair was configured according to the manufacturer's specifications, and tires were properly inflated. Experienced test technicians were used for the tennis court tests, and treadmill tests. An ISO 100 kg test dummy was used for the ISO Double Drum test. Energy consumption was measured over a distance of 1500 m for each of the three test conditions. The rolling surface was level in all cases. Repeated measure analysis of variance (ANOVA) revealed a significant difference (p = 0.0001) between the predicted range at maximum speed for the three tests. Post hoc analysis demonstrated a significant difference (p < 0.01) in estimated range at maximum speed between the Double Drum test and the treadmill test, as well as between the Double Drum test and the tennis court test. Our results indicate no significant difference (p > 0.05) between the predicted range at maximal speed between the treadmill and tennis court tests. A simple relationship does not exist between the results of range testing with the Double Drum tester and the tennis court. An alternative would be to permit the use of a treadmill for range testing as simple relationships between all pertinent treadmill and tennis court range data were found. For the Double Drum tester used, the current demand is higher than under normal usage. This presents a problem as current is related to load torque in a power wheelchair. Hence, the Double Drum tester friction must be reduced. The predicted range for the tennis court test at maximum speed ranges from a low of 23.6 km to a high of 57.7 km. The range of the power wheelchair can be improved by the use of wet lead acid batteries in place of gel lead acid batteries.


Subject(s)
Wheelchairs , Electric Power Supplies , Stress, Mechanical
17.
Am J Med Genet ; 51(4): 294-7, 1994 Jul 15.
Article in English | MEDLINE | ID: mdl-7942990

ABSTRACT

A 2-year-old boy with manifestations of the fragile X syndrome was found to have a cytogenetically visible deletion of Xq27-q28 including deletion of FMR-1. Molecular analysis of the patient was recently described in Tarleton et al. [1993: Hum Mol Genet 2(11): 1973-1974] and the deletion was estimated to be at least 3 megabases (Mb). His mother had 2 FMR-1 alleles with normal numbers of CGG repeats, 20 and 32, respectively. Thus, the deletion occurred as a de novo event. The patient does not appear to have clinical or laboratory findings other than those typically associated with fragile X syndrome, suggesting that the deletion does not remove other contiguous genes. This report describes the phenotype of the patient, including psychological studies.


Subject(s)
Fragile X Syndrome/genetics , Gene Deletion , Chromosome Fragility , Humans , Infant , Karyotyping , Male , Phenotype
18.
J Neuroimmunol ; 52(1): 9-17, 1994 Jun.
Article in English | MEDLINE | ID: mdl-8207122

ABSTRACT

To investigate the potential role of cytokines in the development of the central nervous system, we analyzed the production of cytokine mRNA transcripts by S1-nuclease protection analysis in the brains of Swiss-Webster mice during fetal development and after birth. Cytokines studied were interleukin (IL)-1 alpha, IL-2, IL-3, IL-4, IL-5, IL-6, IL-7, macrophage-colony stimulating factor (M-CSF), granulocyte-colony stimulating factor (G-CSF), granulocyte macrophage-colony stimulating factor (GM-CSF), and leukemia inhibitory factor (LIF). Only mRNA transcripts for M-CSF were found to be produced constitutively in normal brain tissue. These transcripts were detected continuously from embryonic day (ED) 13 through adulthood. Transcripts encoding the M-CSF receptor (c-fms) were also detected at all of these time points. Despite identification of M-CSF transcripts in the brains of normal mice during development and M-CSF protein in cell cultures, neuropathological examination of the brains of op/op mice, a naturally occurring mouse mutant defective in the production of functional M-CSF, showed no cytoarchitectural abnormalities.


Subject(s)
Brain/metabolism , Macrophage Colony-Stimulating Factor/biosynthesis , Receptor, Macrophage Colony-Stimulating Factor/biosynthesis , Age Factors , Animals , Brain/embryology , Brain/growth & development , Cytokines/biosynthesis , Female , Macrophage Colony-Stimulating Factor/genetics , Macrophage Colony-Stimulating Factor/physiology , Mice , Osteopetrosis/metabolism , Pregnancy , RNA, Messenger/analysis
19.
Am J Perinatol ; 8(2): 73-6, 1991 Mar.
Article in English | MEDLINE | ID: mdl-1706599

ABSTRACT

Informed consent of medical procedures should include a discussion of both the risk of the procedure and the probability of the malady in question. Many centers in the United States currently recommend amniocentesis for all women with elevated levels of maternal serum alpha-fetoprotein (MSAFP) unexplained by targeted ultrasound examination. Prospective clinical data from our unit support the use of an algorithm that provides for a 90% reduction of the predicted risk of neural tube defect from MSAFP alone. The predicted risk is revised only if the ultrasound shows normal fetal cranial size and shape, normal ventricular size, normal posterior fossa anatomy, and normal spinal anatomy. Preliminary results supported this approach with no reduction in sensitivity, while substantially reducing the need for invasive testing. The additional experience reported here of 20,211 patients resulted in 451 ultrasound examinations for an elevated MSAFP, but only 54 amniocenteses. During this period, nine open neural tube defects were detected among patients with elevated MSAFP using ultrasound; none was missed. All fetuses with defects had ultrasound findings of cranial and intracranial changes first reported by Campbell. These data support the premise that, prior to amniocentesis, informed consent should include discussion of the ultrasound evaluation.


Subject(s)
Informed Consent , Neural Tube Defects/diagnostic imaging , Prenatal Diagnosis , alpha-Fetoproteins/analysis , Amniocentesis , Female , Humans , Neural Tube Defects/diagnosis , Pregnancy , Prospective Studies , Risk , Ultrasonography
20.
Obstet Gynecol ; 76(5 Pt 2): 949-51, 1990 Nov.
Article in English | MEDLINE | ID: mdl-2216262

ABSTRACT

A 25-year-old primigravida delivered monozygotic twins discordant for multiple anomalies and partial trisomy 1 mosaicism. The phenotype of partial trisomy 1 includes craniofacial, central nervous system, and ocular anomalies. The most likely explanation for these findings is that the translocation occurred after twinning occurred. This observation emphasizes that monozygotic twins are not necessarily genetically identical. They are identical at conception, but subsequent mutation and rearrangement of the genome may cause substantial phenotypic differences.


Subject(s)
Abnormalities, Multiple/genetics , Chromosomes, Human, Pair 1 , Diseases in Twins/genetics , Trisomy , Twins, Monozygotic/genetics , Adult , Female , Humans , Infant, Newborn , Karyotyping , Male , Mosaicism/genetics , Phenotype , Pregnancy , Translocation, Genetic/genetics , Y Chromosome
SELECTION OF CITATIONS
SEARCH DETAIL
...