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Results 351 - 400 of 785
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Pfeiffer R A - - 1998
We report on a malformed stillborn with deletion 3p subsequent to direct paracentric insertion (intraarm shift) in the normal father which had been first mistaken for paracentric inversion. The corrected diagnosis was supported by FISH of mapped markers on metaphase chromosomes. In addition we looked for recombinants in sperm. This ...
Fagundes V - - 1998
All available published cytogenetic data show the presence of 28 different karyotypes in 311 specimens of A. cursor as an exceptional example of high karyotype variability in a single species. Our present sample of 116 animals collected in the rain forest of the Atlantic coast of the states of São ...
Mestres F - - 1998
Drosophila subobscura is a species with rich chromosomal polymorphism. More than 45 arrangements have been described in the O chromosome. The recombination between them is an interesting topic, because many nonoverlapping arrangements are inherited together. In the analysis of recombination between the arrangements O7 and O3 + 4 + 8, ...
Schwartz A - - 1998
The human X and Y chromosomes share many blocks of similar DNA sequence. We conducted mapping and nucleotide sequencing studies of extensive, multi-megabase homologies between Yp and Xq21, which do not recombine during male meiosis. We confirmed and built upon previous evidence that a Yp inversion had occurred during evolution: ...
Norry F M - - 1997
Genetic variation in correlations among size-related traits of head, thorax and wings was examined in Drosophila buzzatii, by comparing the correlation pattern of the phenotypic correlation matrix (CP-Rp) between inversion karyotypes of the second chromosome. CP-Rp differed between some karyotypes in a natural population. CP-Rp in homokaryotypic classes of wild-reared ...
Collinson M N - - 1997
We present 33 families in which a pericentric inversion of chromosome 10 is segregating. In addition, we summarise the data on 32 families in which an apparently identical inv(10) has been reported in the literature. Ascertainment was through prenatal diagnosis or with a normal phenotype in 21/33 families. In the ...
Sachs R K - - 1997
Many chromosome-type, exchange-type chromosomal aberrations produced by radiation are intrachanges, i.e. involve only one chromosome. It is assumed such intrachanges are formed by illegitimate reunion of two double-strand breaks (DSBs) on the chromosome. The yield of intra-arm intrachanges (acentric rings or paracentric inversions) relative to that of interarm intrachanges (centric ...
Lehmann L - - 1997
Karyotype analysis of a primary culture from a case of papillary thyroid cancer (PTC) showed an abnormal short arm of one homologue of chromosome 2 as sole abnormality in 4 of 16 metaphases. Based on G-banding analysis, two different aberration types on chromosome 2 could be assumed representing either a ...
Stanley W S - - 1997
Nonrandom aberrations of chromosome 7 have been described in various hematopoietic disorders. We describe here two unrelated families with the same constitutional inversion of chromosome 7 [inv(7)(q11.2q22)]. The probands in both families had acute leukemia and cytogenetic analysis revealed that the inversion was the sole cytogenetic abnormality in the bone ...
Roderick T H - - 1997
An autosomal dominant retinal degeneration, called Rd4, was found in a stock carrying the inversion In(4)56Rk, which was induced in a DBA/2J male. The inversion encompasses nearly all of Chromosome 4. It is homozygous lethal and in heterozygotes is always associated with retinal degeneration. In affected mice, the retinal outer ...
Liou J D - - 1997
Here we describe the first reported case of a patient with a familial paracentric inversion in the long arm of the Y chromosome and ambiguous genitalia. FISH analyses with Y chromosome YACs demonstrated that the inversion breakpoints of the patients and the father's Ys appear to be the same and ...
Römling U - - 1997
An analysis of the chromosomal structure of 21 Pseudomonas aeruginosa clone C genotypes of various origins was carried out. The circular chromosomes showed various insertions and deletions which did not alter the gene order in 6 environmental and one ear isolate in comparison with strain PAO and strain C. However, ...
Yang S P - - 1997
A male child with multiple congenital anomalies initially was clinically diagnosed as having Smith-Lemli-Opitz syndrome (SLOS). Subsequent cytogenetic studies revealed an interstitial deletion of 17p11.2, which is associated with Smith-Magenis syndrome (SMS). Biochemical studies were not supportive of a diagnosis of SLOS, and the child did not display the typical ...
della Torre A - - 1997
The Anopheles gambiae complex includes the major vectors of malaria in sub-Saharan Africa where > 80% of all world-wide cases occur. These mosquitoes are characterized by chromosomal inversions associated to the speciation process and to intraspecific ecological and behavioral flexibility. It has been postulated that introgressive hybridization has selectively transferred ...
Greger V - - 1997
Angelman syndrome (AS) most frequently results from large (> or = 5 Mb) de novo deletions of chromosome 15q11-q13. The deletions are exclusively of maternal origin, and a few cases of paternal uniparental disomy of chromosome 15 have been reported. The latter finding indicates that AS is caused by the ...
Kleyman S M - - 1997
We report on a new chromosomal finding in a newborn male with hypertelorism, apparently low-set malformed ears with patent canal, micrognathia with narrow high-arched palate, bilateral webbing of neck with low posterior hairline, widely spaced nipples, and complex heart anomalies. Initially, what appeared to be a simple paracentric inversion of ...
Ranz J M - - 1997
Thirty-three DNA clones containing protein-coding genes have been used for in situ hybridization to the polytene chromosomes of two Drosophila repleta group species, D. repleta and D. buzzatii. Twenty-six clones gave positive results allowing the precise localization of 26 genes and the tentative identification of another nine. The results were ...
Tarzami S T - - 1997
In humans, acute myelomonocytic leukemia (AMML) with abnormal bone marrow eosinophilia is diagnosed by the presence of a pericentric inversion in chromosome 16, involving breakpoints p13;q23 [i.e., inv(16)(p13;q23)]. A pericentric inversion involves breaks that have occurred on the p and q arms and the segment in between is rotated 180 ...
Cotter P D - - 1997
The finding of homozygosity for a pericentric inversion of chromosome 9 [inv(9)] is rare, and previously has not been reported at prenatal diagnosis. We describe two unrelated cases of homozygosity for inv(9) identified in amniocytes. In each case, both parents were heterozygotes for the inv(9); 46,XX,inv(9)(p11q13) and 46,XY,inv(9) (p11q13). Case ...
Paik Y K - - 1998
Investigations on the chromosomal inversion polymorphism were conducted on a Korean (Taenung) natural population of D. melanogaster during the period 1978 to 1992. A total of 66 different endemic and cosmopolitan inversions were found on both major chromosome pairs II and III. Some of them proved to be rare cosmopolitan ...
Norry F M - - 1997
Genetic variation in correlations among size-related traits of head, thorax, and wings was examined in Drosophila buzzatii, by comparing the pattern of the Phenotypic Correlation Matrix (Rp) between inversion karyotypes of the second chromosome. No similarity in Rp was observed between some karyotypes in a natural population. The pattern of ...
Nagamachi C Y - - 1997
The karyotypes of two taxa of genus Leontopithecus (rosalia and chrysomelas) are studied. Their G-, C- and NOR-banding patterns are compared with those of representatives of the genus Saguinus to determine chromosomal similarities and differences between the two genera and thus contribute to explaining phylogenetic relations between the tamarins. Leontopithecus, ...
Fredga K - - 1997
The Lund Y (Lu-Y) chromosome of the field vole (Microtus agrestis) is distinguished from the standard Y (St-Y) by its much longer short arm. G-banding revealed that the Lu-Y originated by a pericentric inversion in the St-Y. Chromosome analysis of 297 male field voles from 92 localities in Fennoscandia. Germany, ...
McConkey E H - - 1997
Karyotype analysis by previous investigators demonstrated that human chromosome 18 differs from homologous chromosomes in the great apes by a pericentric inversion. The present study uses fluorescence in situ hybridization on human and pygmy chimpanzee chromosomes to confirm the inversion and to delimit the regions where the breakpoints must have ...
Schloerb F P - - 1997
Observations of comets in the 18-cm OH transitions offer a means to probe gas production, kinematics, and OH excitation in comets. We present initial results of OH observations of comet Hale-Bopp obtained with the NRAO 43 m antenna located in Greenbank, WV. Maps of the emission provide strong constraints on ...
Fernandes-Matioli F M - - 1997
An investigation was conducted on six populations of Gymnotus carapo from the Upper Parana river system in Brazil. A wide variability of the NOR-bearing chromosomes was found involving paracentric inversions in the heterochromatic regions associated with NORs, resulting in 5 NOR chromosome phenotypes. The distribution of the distinct NOR phenotypes ...
Inayama Y - - 1997
A 36-year-old man with schizoaffective disorder was found to have a de novo 46 XY inv (9) (q31.2q34.3). Phenotypical abnormalities are short stature, depressed nasal bridge, hypertelorism and slender shoulders. Paracentric inversion of chromosome 9 is a rare chromosome aberration. This case suggests a new candidate region related to schizoaffective ...
Venditti C P - - 1997
Hereditary haemochromatosis (HFE) is a recessive genetic disease of iron overload which has been shown by linkage analysis to reside on the short arm of chromosome 6, close to the major histocompatibility complex (MHC). Positional cloning of the putative HFE locus has been hampered, in part, by the lack of ...
Valleix S - - 1997
Following the discovery of the FVIII gene inversion by Lakich et al. [1] and Naylor et al. [2], we have investigated this mutation in 108 French and Algerian severe haemophilia A patients. We have found that only 29 severe haemophiliacs (27%) exhibited the rearrangement whereas Lakich et al. [1] and ...
Lucas J N - - 1997
We used three common fluorescent probes to measure pericentric inversion frequencies in 2.9 Gy 60Co gamma-irradiated human lymphocytes. For a given chromosome, the first probe is specific to one telomeric region, the second probe is specific to one subcentromeric region and the third probe is specific to the centromere. A ...
Mejía-Baltodano G - - 1997
We report a family in which the father carries a pericentric inversion involving two third of the chromosome 18 (p11.2q22). Of his three children, the proposita and her youngest brother show partial duplication of the short arm and partial deficiency of the long arm; the oldest sister shows the other ...
Githeko A K - - 1996
In Kenya indoor and outdoor resting densities of Anopheles arabiensis and Anopheles funestus at the Ahero rice irrigation scheme, and Anopheles gambiae s.s., An. arabiensis and An. funestus at the Miwani sugar belt were assessed for 13 months by pyrethrum spray collections in houses and granaries. The vector's house leaving ...
Natarajan A T - - 1996
Frequencies of intra-chromosomal exchanges (pericentric inversions and centric rings) and inter-chromosomal exchanges (dicentrics and translocations) in X-irradiated (2.5 Gy) human lymphocytes have been estimated. To detect these events we employed FISH (fluorescence in situ hybridization) technique and arm specific painting probes for chromosomes #1 and #3. The ratio between centric ...
Mitev L - - 1996
A case of essential thrombocythemia (ET) with extreme thrombocytosis in a 70-year-old male patient is described. The cytogenetic analysis revealed a pathologic clone with the following previously unreported, unusual karyotype: 46,XY,t(13;14)(q32:q32.3) and pericentric inversion of chromosome 9. The possible association of t(13;14) with the high platelet count is discussed.
Eggleston W B - - 1996
The structure of chromosomal inversions mediated by hobo transposable elements in the Uc-1 X chromosome was investigated using cytogenetic and molecular methods. Uc-1 contains a phenotypically silent hobo element inserted in an intron of the Notch locus. Cytological screening identified six independent Notch mutations resulting from chromosomal inversions with one ...
Markie D - - 1996
Karyotypic analysis in a patient with Peutz-Jeghers' syndrome demonstrated a pericentric inversion on chromosome 6. Further investigation was undertaken using fluorescence in situ hybridisation (FISH) with yeast artificial chromosome clones selected to contain genetic markers from chromosome 6, and a probe for the centromeric alphoid repeat array. This analysis located ...
Ye F - - 1996
Genetic variations in the plant pathogen, Spiroplasma citri strain BR3, were characterized through physical genome mapping of the original isolate, BR3-3X, and two derivatives, BR3-T and BR3-G, obtained after several years of different maintenance conditions. BR3-T was transmitted from plant to plant via its natural insect vector, the leafhopper Circulifer ...
Frei H - - 1996
Four inhibitors of eukaryotic topoisomerases were investigated for genotoxic effects in the wing spot test of Drosophila melanogaster. As a somatic mutation and recombination test (SMART) this assay assesses mitotic recombination and mutational events of various kinds. We studied camptothecin as a topoisomerase I inhibitor, as well as ellipticine as ...
Milàn C - - 1996
A case-control study of the C-bands of #1, 9 and 16 was performed on PHA-stimulated lymphocytes in 29 individuals, 16 of whom with laryngeal carcinoma. C-bands were revealed using Sumner's CBG staining technique. The assay for chromosomic markers was performed using traditional measuring methods and an image analysis system. The ...
Shashi V - - 1996
It has been demonstrated in animal studies that, in animals heterozygous for pericentric chromosomal inversions, loop formation is greatly reduced during meiosis. This results in absence of recombination within the inverted segment, with recombination seen only outside the inversion. A recent study in yeast has shown that telomeres, rather than ...
Hasle H - - 1996
Familial haemophagocytic lymphohistiocytosis (HLH) is considered an autosomal recessive disease, although the putative gene responsible for the disease has not yet been localized. Identification of the involved gene may elucidate the pathogenesis of the disease and is essential for prenatal testing in affected families. We present an infant with HLH ...
Tuck-Muller C M - - 1996
Intrachromosomal rearrangements usually result from three of fewer breaks. We report a complex intrachromosomal rearrangement resulting from five breaks in one chromosome 10 of a phenotypically normal father of two developmentally delayed children. GTG-banding analysis of the father's rearranged chromosome 10 suggested in initial pericentric inversion followed by an insertion ...
Regner L P - - 1996
According to the recent-invasion hypothesis, Drosophila melanogaster may have acquired its P elements in a fairly recent process of horizontal transmission between species. Drosophila willistoni has been identified as the potential donor species in that transfer process. A most remarkable feature of D. willistoni is its extensive chromosomal polymorphism due ...
Kozma C - - 1996
We report the first case of an apparent de novo pericentric inversion of chromosome 2 at the breakpoints p13q11.2 that was detected prenatally. Follow-up performed over 4 years showed phenotypic abnormalities including minor craniofacial dysmorphism, hypotonia, hearing loss, gustatory flushing syndrome, and severe developmental delays. The literature on chromosome 2 ...
Haferlach T - - 1996
The French-American-British subtype acute myelomonocytic leukemia with abnormal eosinophils (FAB AML M4Eo) with pericentric inversion of chromosome 16 is cytomorphologically defined by a myelomonoblastic blast population and abnormal eosinophils. Until now, it remained an open question whether these abnormal eosinophils are part of the malignant clone or an epiphenomenon. We ...
Baimai V - - 1996
Among the eight families of Anopheles willmori derived from individual wild-caught females collected from Chiangmai Province (northern Thailand) and examined, four isofemale lines showed variation in the X chromosome, including the normal X1 and three aberrant types (X3, X4 and XL). It is postulated that these different types of X ...
Navarro A - - 1996
The total gametic disequilibrium between two loci linked to polymorphic inversions can be partitioned into two types of components: within and between chromosome arrangements. The within components depend on the gametic disequilibrium within each chromosome arrangement. The between components depend on the locus-inversion disequilibria. This partitioning has practical applications and ...
Verma R S - - 1996
We report a new pericentric inversion of chromosome 4 in a female who has had two consecutive fetal losses during the first trimester conception. Cytogenetic findings with GTG-banding revealed a 46,XX,inv(4) (p13q13) karyotype in her peripheral blood cells. The breakpoint on the long arm is different from any other previously ...
Bailey S M - - 1996
A new approach for detecting chromosomal inversions, based on the recently developed technique of chromosome orientation and direction fluorescence in situ hybridization (COD-FISH), is presented. COD-FISH is a strand-specific modification of standard FISH technology which allows the hybridization of single-stranded probes to one, and only one, chromatid of a metaphase ...
Tanabe H - - 1996
Karyotypic homology in relation to human chromosome 9 (HSA 9) was studied through comparative mapping of the immunoglobulin-processed pseudogene C epsilon 3 (IGHEP2) in primates. IGHEP2, which has been mapped to 9p24.2 --> p24.1 in the human genome, was assigned to PTR 11q34 (common chimpanzee), PPA 11q34 (pygmy chimpanzee), PPY ...
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