Examination of CHROMOSOMES to diagnose, classify, screen for, or manage genetic diseases and abnormalities. Following preparation of the sample, KARYOTYPING is performed and/or the specific chromosomes are analyzed.
Mapping of the KARYOTYPE of a cell.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
A subdiscipline of genetics which deals with the cytological and molecular analysis of the CHROMOSOMES, and location of the GENES on chromosomes, and the movements of chromosomes during the CELL CYCLE.
Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.
A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.
A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
The possession of a third chromosome of any one type in an otherwise diploid cell.
The full set of CHROMOSOMES presented as a systematized array of METAPHASE chromosomes from a photomicrograph of a single CELL NUCLEUS arranged in pairs in descending order of size and according to the position of the CENTROMERE. (From Stedman, 25th ed)
The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
The simultaneous identification of all chromosomes from a cell by fluorescence in situ hybridization (IN SITU HYBRIDIZATION, FLUORESCENCE) with chromosome-specific florescent probes that are discerned by their different emission spectra.
Actual loss of portion of a chromosome.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.
The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT.
The phase of cell nucleus division following PROMETAPHASE, in which the CHROMOSOMES line up across the equatorial plane of the SPINDLE APPARATUS prior to separation.
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).
The degree of replication of the chromosome set in the karyotype.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
Any method used for determining the location of and relative distances between genes on a chromosome.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
A specific pair of GROUP C CHROMSOMES of the human chromosome classification.
The coordination of services in one area of a facility to improve efficiency.
Polyploidy with three sets of chromosomes. Triploidy in humans are 69XXX, 69XXY, and 69XYY. It is associated with HOLOPROSENCEPHALY; ABNORMALITIES, MULTIPLE; PARTIAL HYDATIDIFORM MOLE; and MISCARRAGES.
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.
The interval between two successive CELL DIVISIONS during which the CHROMOSOMES are not individually distinguishable. It is composed of the G phases (G1 PHASE; G0 PHASE; G2 PHASE) and S PHASE (when DNA replication occurs).
The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
Clonal hematopoietic stem cell disorders characterized by dysplasia in one or more hematopoietic cell lineages. They predominantly affect patients over 60, are considered preleukemic conditions, and have high probability of transformation into ACUTE MYELOID LEUKEMIA.
An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETARDATION, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia. It is caused by a deletion of the short arm of chromosome 5 (5p-).
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.
A specific pair GROUP C CHROMSOMES of the human chromosome classification.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.
A technique for visualizing CHROMOSOME ABERRATIONS using fluorescently labeled DNA probes which are hybridized to chromosomal DNA. Multiple fluorochromes may be attached to the probes. Upon hybridization, this produces a multicolored, or painted, effect with a unique color at each site of hybridization. This technique may also be used to identify cross-species homology by labeling probes from one species for hybridization with chromosomes from another species.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)
Aberrant chromosomes with no ends, i.e., circular.
A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
The retention in the UTERUS of a dead FETUS two months or more after its DEATH.
The male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans and in some other male-heterogametic species in which the homologue of the X chromosome has been retained.
Form of leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors (MYELOID PROGENITOR CELLS) in the bone marrow and other sites.
DNA present in neoplastic tissue.
The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)
An aberrant form of human CHROMOSOME 22 characterized by translocation of the distal end of chromosome 9 from 9q34, to the long arm of chromosome 22 at 22q11. It is present in the bone marrow cells of 80 to 90 per cent of patients with chronic myelocytic leukemia (LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE).
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.
The soft tissue filling the cavities of bones. Bone marrow exists in two types, yellow and red. Yellow marrow is found in the large cavities of large bones and consists mostly of fat cells and a few primitive blood cells. Red marrow is a hematopoietic tissue and is the site of production of erythrocytes and granular leukocytes. Bone marrow is made up of a framework of connective tissue containing branching fibers with the frame being filled with marrow cells.
Clonal hematopoetic disorder caused by an acquired genetic defect in PLURIPOTENT STEM CELLS. It starts in MYELOID CELLS of the bone marrow, invades the blood and then other organs. The condition progresses from a stable, more indolent, chronic phase (LEUKEMIA, MYELOID, CHRONIC PHASE) lasting up to 7 years, to an advanced phase composed of an accelerated phase (LEUKEMIA, MYELOID, ACCELERATED PHASE) and BLAST CRISIS.
Process of classifying cells of the immune system based on structural and functional differences. The process is commonly used to analyze and sort T-lymphocytes into subsets based on CD antigens by the technique of flow cytometry.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
A method for comparing two sets of chromosomal DNA by analyzing differences in the copy number and location of specific sequences. It is used to look for large sequence changes such as deletions, duplications, amplifications, or translocations.
Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.
The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.
Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES.
A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.
The chromosome region which is active in nucleolus formation and which functions in the synthesis of ribosomal RNA.
A neoplasm characterized by abnormalities of the lymphoid cell precursors leading to excessive lymphoblasts in the marrow and other organs. It is the most common cancer in children and accounts for the vast majority of all childhood leukemias.
Expulsion of the product of FERTILIZATION before completing the term of GESTATION and without deliberate interference.
A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.
Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.
PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
The clear constricted portion of the chromosome at which the chromatids are joined and by which the chromosome is attached to the spindle during cell division.
The short, acrocentric human chromosomes, called group G in the human chromosome classification. This group consists of chromosome pairs 21 and 22 and the Y chromosome.
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.
A characteristic symptom complex.
Removal of bone marrow and evaluation of its histologic picture.
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
Any cell, other than a ZYGOTE, that contains elements (such as NUCLEI and CYTOPLASM) from two or more different cells, usually produced by artificial CELL FUSION.
A group of genetically identical cells all descended from a single common ancestral cell by mitosis in eukaryotes or by binary fission in prokaryotes. Clone cells also include populations of recombinant DNA molecules all carrying the same inserted sequence. (From King & Stansfield, Dictionary of Genetics, 4th ed)
Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept.
Induction and quantitative measurement of chromosomal damage leading to the formation of micronuclei (MICRONUCLEI, CHROMOSOME-DEFECTIVE) in cells which have been exposed to genotoxic agents or IONIZING RADIATION.
A selective increase in the number of copies of a gene coding for a specific protein without a proportional increase in other genes. It occurs naturally via the excision of a copy of the repeating sequence from the chromosome and its extrachromosomal replication in a plasmid, or via the production of an RNA transcript of the entire repeating sequence of ribosomal RNA followed by the reverse transcription of the molecule to produce an additional copy of the original DNA sequence. Laboratory techniques have been introduced for inducing disproportional replication by unequal crossing over, uptake of DNA from lysed cells, or generation of extrachromosomal sequences from rolling circle replication.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
The portion of chromosome material that remains condensed and is transcriptionally inactive during INTERPHASE.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A malignant neoplasm arising from tenosynovial tissue of the joints and in synovial cells of tendons and bursae. The legs are the most common site, but the tumor can occur in the abdominal wall and other trunk muscles. There are two recognized types: the monophasic (characterized by sheaths of monotonous spindle cells) and the biphasic (characterized by slit-like spaces or clefts within the tumor, lined by cuboidal or tall columnar epithelial cells). These sarcomas occur most commonly in the second and fourth decades of life. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1363)
Highly repetitive DNA sequences found in HETEROCHROMATIN, mainly near centromeres. They are composed of simple sequences (very short) (see MINISATELLITE REPEATS) repeated in tandem many times to form large blocks of sequence. Additionally, following the accumulation of mutations, these blocks of repeats have been repeated in tandem themselves. The degree of repetition is on the order of 1000 to 10 million at each locus. Loci are few, usually one or two per chromosome. They were called satellites since in density gradients, they often sediment as distinct, satellite bands separate from the bulk of genomic DNA owing to a distinct BASE COMPOSITION.
Myeloid-lymphoid leukemia protein is a transcription factor that maintains high levels of HOMEOTIC GENE expression during development. The GENE for myeloid-lymphoid leukemia protein is commonly disrupted in LEUKEMIA and combines with over 40 partner genes to form FUSION ONCOGENE PROTEINS.
The GENETIC TRANSLATION products of the fusion between an ONCOGENE and another gene. The latter may be of viral or cellular origin.
A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)
Cells grown in vitro from neoplastic tissue. If they can be established as a TUMOR CELL LINE, they can be propagated in cell culture indefinitely.
A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.
Cell changes manifested by escape from control mechanisms, increased growth potential, alterations in the cell surface, karyotypic abnormalities, morphological and biochemical deviations from the norm, and other attributes conferring the ability to invade, metastasize, and kill.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.
An individual having different alleles at one or more loci regarding a specific character.
Constituent of the 40S subunit of eukaryotic ribosomes. 18S rRNA is involved in the initiation of polypeptide synthesis in eukaryotes.
Neoplasms of whatever cell type or origin, occurring in the extraskeletal connective tissue framework of the body including the organs of locomotion and their various component structures, such as nerves, blood vessels, lymphatics, etc.
An assisted reproductive technique that includes the direct handling and manipulation of oocytes and sperm to achieve fertilization in vitro.
The fertilized OVUM resulting from the fusion of a male and a female gamete.
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
Female germ cells derived from OOGONIA and termed OOCYTES when they enter MEIOSIS. The primary oocytes begin meiosis but are arrested at the diplotene state until OVULATION at PUBERTY to give rise to haploid secondary oocytes or ova (OVUM).
Normal cellular genes homologous to viral oncogenes. The products of proto-oncogenes are important regulators of biological processes and appear to be involved in the events that serve to maintain the ordered procession through the cell cycle. Proto-oncogenes have names of the form c-onc.
A species of fruit fly much used in genetics because of the large size of its chromosomes.
An infant during the first month after birth.
White blood cells formed in the body's lymphoid tissue. The nucleus is round or ovoid with coarse, irregularly clumped chromatin while the cytoplasm is typically pale blue with azurophilic (if any) granules. Most lymphocytes can be classified as either T or B (with subpopulations of each), or NATURAL KILLER CELLS.
A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes.
Experimental transplantation of neoplasms in laboratory animals for research purposes.
Translation products of a fusion gene derived from CHROMOSOMAL TRANSLOCATION of C-ABL GENES to the genetic locus of the breakpoint cluster region gene on chromosome 22. Several different variants of the bcr-abl fusion proteins occur depending upon the precise location of the chromosomal breakpoint. These variants can be associated with distinct subtypes of leukemias such as PRECURSOR CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE; and NEUTROPHILIC LEUKEMIA, CHRONIC.
Disease having a short and relatively severe course.
A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.
A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones. The tumor occurs usually before the age of 20, about twice as frequently in males as in females.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
A chronic leukemia characterized by abnormal B-lymphocytes and often generalized lymphadenopathy. In patients presenting predominately with blood and bone marrow involvement it is called chronic lymphocytic leukemia (CLL); in those predominately with enlarged lymph nodes it is called small lymphocytic lymphoma. These terms represent spectrums of the same disease.
A type of CELL NUCLEUS division, occurring during maturation of the GERM CELLS. Two successive cell nucleus divisions following a single chromosome duplication (S PHASE) result in daughter cells with half the number of CHROMOSOMES as the parent cells.
Family of retrovirus-associated DNA sequences (myc) originally isolated from an avian myelocytomatosis virus. The proto-oncogene myc (c-myc) codes for a nuclear protein which is involved in nucleic acid metabolism and in mediating the cellular response to growth factors. Truncation of the first exon, which appears to regulate c-myc expression, is crucial for tumorigenicity. The human c-myc gene is located at 8q24 on the long arm of chromosome 8.
Leukemia associated with HYPERPLASIA of the lymphoid tissues and increased numbers of circulating malignant LYMPHOCYTES and lymphoblasts.
Tumors or cancers of the KIDNEY.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
Mature male germ cells derived from SPERMATIDS. As spermatids move toward the lumen of the SEMINIFEROUS TUBULES, they undergo extensive structural changes including the loss of cytoplasm, condensation of CHROMATIN into the SPERM HEAD, formation of the ACROSOME cap, the SPERM MIDPIECE and the SPERM TAIL that provides motility.
Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease.
The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
Technique using an instrument system for making, processing, and displaying one or more measurements on individual cells obtained from a cell suspension. Cells are usually stained with one or more fluorescent dyes specific to cell components of interest, e.g., DNA, and fluorescence of each cell is measured as it rapidly transverses the excitation beam (laser or mercury arc lamp). Fluorescence provides a quantitative measure of various biochemical and biophysical properties of the cell, as well as a basis for cell sorting. Other measurable optical parameters include light absorption and light scattering, the latter being applicable to the measurement of cell size, shape, density, granularity, and stain uptake.
A general term for various neoplastic diseases of the lymphoid tissue.
The transference of BONE MARROW from one human or animal to another for a variety of purposes including HEMATOPOIETIC STEM CELL TRANSPLANTATION or MESENCHYMAL STEM CELL TRANSPLANTATION.
The age of the mother in PREGNANCY.
Deoxyribonucleic acid that makes up the genetic material of plants.
The largest of polypeptide chains comprising immunoglobulins. They contain 450 to 600 amino acid residues per chain, and have molecular weights of 51-72 kDa.
The beginning third of a human PREGNANCY, from the first day of the last normal menstrual period (MENSTRUATION) through the completion of 14 weeks (98 days) of gestation.
Established cell cultures that have the potential to propagate indefinitely.
An assisted fertilization technique consisting of the microinjection of a single viable sperm into an extracted ovum. It is used principally to overcome low sperm count, low sperm motility, inability of sperm to penetrate the egg, or other conditions related to male infertility (INFERTILITY, MALE).
Transplantation between animals of different species.
Genes whose gain-of-function alterations lead to NEOPLASTIC CELL TRANSFORMATION. They include, for example, genes for activators or stimulators of CELL PROLIFERATION such as growth factors, growth factor receptors, protein kinases, signal transducers, nuclear phosphoproteins, and transcription factors. A prefix of "v-" before oncogene symbols indicates oncogenes captured and transmitted by RETROVIRUSES; the prefix "c-" before the gene symbol of an oncogene indicates it is the cellular homolog (PROTO-ONCOGENES) of a v-oncogene.
A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species.
A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).
An individual in which both alleles at a given locus are identical.
A malignancy of mature PLASMA CELLS engaging in monoclonal immunoglobulin production. It is characterized by hyperglobulinemia, excess Bence-Jones proteins (free monoclonal IMMUNOGLOBULIN LIGHT CHAINS) in the urine, skeletal destruction, bone pain, and fractures. Other features include ANEMIA; HYPERCALCEMIA; and RENAL INSUFFICIENCY.
Cells contained in the bone marrow including fat cells (see ADIPOCYTES); STROMAL CELLS; MEGAKARYOCYTES; and the immediate precursors of most blood cells.
Proteins whose abnormal expression (gain or loss) are associated with the development, growth, or progression of NEOPLASMS. Some neoplasm proteins are tumor antigens (ANTIGENS, NEOPLASM), i.e. they induce an immune reaction to their tumor. Many neoplasm proteins have been characterized and are used as tumor markers (BIOMARKERS, TUMOR) when they are detectable in cells and body fluids as monitors for the presence or growth of tumors. Abnormal expression of ONCOGENE PROTEINS is involved in neoplastic transformation, whereas the loss of expression of TUMOR SUPPRESSOR PROTEINS is involved with the loss of growth control and progression of the neoplasm.
The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.
A test used to determine whether or not complementation (compensation in the form of dominance) will occur in a cell with a given mutant phenotype when another mutant genome, encoding the same mutant phenotype, is introduced into that cell.
Mutant mice homozygous for the recessive gene "nude" which fail to develop a thymus. They are useful in tumor studies and studies on immune responses.
A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.
Histochemical localization of immunoreactive substances using labeled antibodies as reagents.
Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).
A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs.
Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.
Therapeutic act or process that initiates a response to a complete or partial remission level.
A technique that localizes specific nucleic acid sequences within intact chromosomes, eukaryotic cells, or bacterial cells through the use of specific nucleic acid-labeled probes.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
A post-MORULA preimplantation mammalian embryo that develops from a 32-cell stage into a fluid-filled hollow ball of over a hundred cells. A blastocyst has two distinctive tissues. The outer layer of trophoblasts gives rise to extra-embryonic tissues. The inner cell mass gives rise to the embryonic disc and eventual embryo proper.
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
Tumor suppressor genes located on the short arm of human chromosome 17 and coding for the phosphoprotein p53.
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.
Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.
Biochemical identification of mutational changes in a nucleotide sequence.
The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.
A subfamily in the family MURIDAE, comprising the hamsters. Four of the more common genera are Cricetus, CRICETULUS; MESOCRICETUS; and PHODOPUS.
Products of proto-oncogenes. Normally they do not have oncogenic or transforming properties, but are involved in the regulation or differentiation of cell growth. They often have protein kinase activity.
Genes that inhibit expression of the tumorigenic phenotype. They are normally involved in holding cellular growth in check. When tumor suppressor genes are inactivated or lost, a barrier to normal proliferation is removed and unregulated growth is possible.
Progenitor cells from which all blood cells derive.
Binary classification measures to assess test results. Sensitivity or recall rate is the proportion of true positives. Specificity is the probability of correctly determining the absence of a condition. (From Last, Dictionary of Epidemiology, 2d ed)
A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma.
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
Differentiation antigens residing on mammalian leukocytes. CD stands for cluster of differentiation, which refers to groups of monoclonal antibodies that show similar reactivity with certain subpopulations of antigens of a particular lineage or differentiation stage. The subpopulations of antigens are also known by the same CD designation.
The fission of a CELL. It includes CYTOKINESIS, when the CYTOPLASM of a cell is divided, and CELL NUCLEUS DIVISION.
Hybridization of a nucleic acid sample to a very large set of OLIGONUCLEOTIDE PROBES, which have been attached individually in columns and rows to a solid support, to determine a BASE SEQUENCE, or to detect variations in a gene sequence, GENE EXPRESSION, or for GENE MAPPING.
A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.
DNA sequences encoding RIBOSOMAL RNA and the segments of DNA separating the individual ribosomal RNA genes, referred to as RIBOSOMAL SPACER DNA.
The use of two or more chemicals simultaneously or sequentially in the drug therapy of neoplasms. The drugs need not be in the same dosage form.
Deletion of sequences of nucleic acids from the genetic material of an individual.
Molecular products metabolized and secreted by neoplastic tissue and characterized biochemically in cells or body fluids. They are indicators of tumor stage and grade as well as useful for monitoring responses to treatment and predicting recurrence. Many chemical groups are represented including hormones, antigens, amino and nucleic acids, enzymes, polyamines, and specific cell membrane proteins and lipids.
Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS.
Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Transplantation between individuals of the same species. Usually refers to genetically disparate individuals in contradistinction to isogeneic transplantation for genetically identical individuals.
A cell line derived from cultured tumor cells.
A class of statistical procedures for estimating the survival function (function of time, starting with a population 100% well at a given time and providing the percentage of the population still well at later times). The survival analysis is then used for making inferences about the effects of treatments, prognostic factors, exposures, and other covariates on the function.
The proportion of survivors in a group, e.g., of patients, studied and followed over a period, or the proportion of persons in a specified group alive at the beginning of a time interval who survive to the end of the interval. It is often studied using life table methods.
The return of a sign, symptom, or disease after a remission.
Elements of limited time intervals, contributing to particular results or situations.
Microscopy using an electron beam, instead of light, to visualize the sample, thereby allowing much greater magnification. The interactions of ELECTRONS with specimens are used to provide information about the fine structure of that specimen. In TRANSMISSION ELECTRON MICROSCOPY the reactions of the electrons that are transmitted through the specimen are imaged. In SCANNING ELECTRON MICROSCOPY an electron beam falls at a non-normal angle on the specimen and the image is derived from the reactions occurring above the plane of the specimen.
Tumors or cancer of the LUNG.
Substances that inhibit or prevent the proliferation of NEOPLASMS.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.
Progressive restriction of the developmental potential and increasing specialization of function that leads to the formation of specialized cells, tissues, and organs.

Williams-Beuren syndrome: genes and mechanisms. (1/933)

Williams-Beuren syndrome (WBS; OMIM 194050) is caused by heterozygous deletions of approximately 1.6 Mb of chromosomal sub-band 7q11.23. The deletions are rather uniform in size as they arise spontaneously by inter- or intrachromosomal crossover events within misaligned duplicated regions of high sequence identity that flank the typical deletion. This review will discuss the status of the molecular characterization of the deletion and flanking regions, the genes identified in the deletion region and their possible roles in generating the complex multi-system clinical phenotype.  (+info)

Oxymetholone: I. Evaluation in a comprehensive battery of genetic toxicology and in vitro transformation assays. (2/933)

Oxymetholone is generally assumed to be a nongenotoxic carcinogen. This assumption is based primarily on the results of an Ames test, existing data in repeat-dose toxicology studies, and the predicted results of a 2-yr National Toxicology Program (NTP) rat carcinogenicity bioassay. To provide a comprehensive assessment of its genotoxicity in a standard battery of mutagenicity assays, oxymetholone was tested in microbial and mammalian cell gene mutation assays, in an in vitro cytogenetics assay (human lymphocytes), and in an in vivo micronucleus assay. Oxymetholone was also tested in an in vitro morphologic transformation model using Syrian hamster embryo (SHE) cells. These studies were initiated and completed prior to the disclosure of the results of the NTP bioassay. Oxymetholone was tested at doses up to 5,000 microg/plate in the bacterial plate incorporation assay using 4 Salmonella strains and the WP2 uvrA (pKM101) strain of Escherichia coil. There was no induction of revertants up to the highest dose levels, which were insoluble as well as toxic. In the L5178Y tk+/- mouse lymphoma assay, doses up to 30 microg/ml reduced relative survival to approximately 30% with no increase in mutants. Male or female human lymphocytes were exposed in vitro to oxymetholone for 24 hr without S9 or 3 hr with S9 and evaluated for the induction of chromosomal aberrations. There was no increase in aberration frequency over control levels and no difference between male and female cells. Peripheral blood from Tg.AC transgenic mice treated dermally for 20 wk with 0, 1.2, 6.0, or 12.0 mg/day of oxymetholone and from p53 transgenic mice treated orally by gavage for 26 wk with 125, 625, or 1,250 mg/kg/day of oxymetholone was evaluated for micronuclei in polychromatic and normochromatic erythrocytes. There was no difference in micronuclei frequency between control and treated animals. These results confirm that oxymetholone is not genotoxic in a comprehensive battery of mutagenicity assays. In the SHE assay, oxymetholone produced a significant increase in morphologically transformed colonies at dose levels of 13-18 microg/ml. The lack of genotoxicity of oxymetholone, the positive response in the in vitro transformation assay, and the results of transgenic mouse carcinogenicity assays will provide an interesting perspective on the results of an on-going NTP rat carcinogenicity bioassay.  (+info)

A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD). (3/933)

Facioscapulohumeral muscular dystrophy (FSHD) is caused by the size reduction of a polymorphic repeat array on 4q35. Probe p13E-11 recognises this chromosomal rearrangement and is generally used for diagnosis. However, diagnosis of FSHD is complicated by three factors. First, the probe cross hybridises to a highly homologous repeat array locus on chromosome 10q26. Second, although a BlnI polymorphism allows discrimination between the repeat units on chromosomes 4 and 10 and greatly facilitates FSHD diagnosis, the occurrence of translocations between chromosomes 4 and 10 further complicates accurate FSHD diagnosis. Third, the recent identification of deletions of p13E-11 in both control and FSHD populations is an additional complicating factor. Although pulsed field gel electrophoresis is very useful and sometimes necessary to detect these rearrangements, this technique is not operational in most FSHD diagnostic laboratories. Moreover, repeat arrays >200 kb are often difficult to detect and can falsely suggest a deletion of p13E-11. Therefore, we have developed an easy and reliable Southern blotting method to identify exchanges between 4 type and 10 type repeat arrays and deletions of p13E-11. This BglII-BlnI dosage test addresses all the above mentioned complicating factors and can be carried out in addition to the standard Southern blot analysis for FSHD diagnosis as performed in most laboratories. It will enhance the specificity and sensitivity of conventional FSHD diagnosis to the values obtained by PFGE based diagnosis of FSHD. Moreover, this study delimits the FSHD candidate gene region by mapping the 4;10 translocation breakpoint proximal to the polymorphic BlnI site in the first repeat unit.  (+info)

Stage, percentage of basophils at diagnosis, hematologic response within six months, cytogenetic response in the first year: the main prognostic variables affecting outcome in patients with chronic myeloid leukemia in chronic phase treated with interferon-alpha. Results of the CML89 trial of the Spanish Collaborative Group on interferon-alpha2a and CML. (4/933)

BACKGROUND AND OBJECTIVE: Interferon-a (IFN) is increasingly being used as the drug of choice in chronic myeloid leukemia patients. The main objectives of the study were to study the influence of the classic prognostic variables and response to IFN, and to assess the influence of this response on the course of the disease and survival. DESIGN AND METHODS: Single arm, prospective, multicenter study, without a control group. Only Ph1-positive CML patients were included. The treatment scheme was biphasic: the patients first received standard chemotherapy and thereafter IFN-a2a was used as monotherapy, with a target dose of 9 MU/d/s.c. RESULTS: Twenty-one centers in Spain enrolled 132 patients (72 men, 60 women). The median dose of IFN given was 5.8 MU/d, and the median treatment duration was 431 days (range: 18-2,597). Seventy-two percent of patients obtained a hematologic response in the first six months of IFN treatment. Genetic response was obtained in 47% of the patients, and the response was major or complete in 27% and 19%, respectively. The median time to obtain this response was 7, 9, and 18 months for minimal, partial and complete genetic response, respectively. Multivariant analysis showed that only a higher percentage of basophils at diagnosis was associated with a worse hematologic response at six months (p=0.001) (OR: 1.23) and with a worse cytogenetic response in the first year of IFN therapy (p=0.018) (OR: 1.4). Over an observation period of 8 years, 35.6% of the patients died, and 85 (64.4%) remained alive. With a median follow-up of 42 months (3.7-98), the 6-year projected probabilities of survival and transformation-free survival were 0.61+/-0.07 vs. 0.54+/-0.07, respectively. Patients with Kantarjian's stage 3 disease or in a high-risk Sokal group had lower probabilities of survival, but these systems did not adequately discriminate in our series. Obtaining a complete hematologic response in the first six months of IFN therapy was favorable in terms of overall survival (p=0.05; HR=0.33). Cox's analysis demonstrated that obtaining a cytogenetic response in the first year was independently associated with better overall survival (p=0.04; HR=0.19) and better transformation-free survival (p=0.0035; HR=0.11). INTERPRETATION AND CONCLUSIONS: Nearly half of the patients obtained some degree of Philadelphia suppression, which was major in 27%, and complete in 19%. A higher percentage of basophils at diagnosis was the only variable associated with a lower probability of cytogenetic response. Obtaining a cytogenetic response during the first year of IFN treatment was a favorable and independent variable in terms of survival and transformation-free survival. Obtaining a major cytogenetic response during this period decreased the risk of transformation twenty times. Our results suggest that the effect of IFN on survival is independent of the classic prognostic variables.  (+info)

In vivo gene expression profile analysis of human breast cancer progression. (5/933)

The development and use of molecular-based therapy for breast cancer and other human malignancies will require a detailed molecular genetic analysis of patient tissues. The recent development of laser capture microdissection and high density cDNA arrays now provides a unique opportunity to generate gene expression profiles of cells from various stages of tumor progression as it occurs in the actual neoplastic tissue milieu. We report the combined use of laser capture microdissection and high-throughput cDNA microarrays to monitor in vivo gene expression levels in purified normal, invasive, and metastatic breast cell populations from a single patient. These in vivo gene expression profiles were verified by real-time quantitative PCR and immunohistochemistry. The combined use of laser capture microdissection and cDNA microarray analysis provides a powerful new approach to elucidate the in vivo molecular events surrounding the development and progression of breast cancer and is generally applicable to the study of malignancy.  (+info)

Evidence for an ependymoma tumour suppressor gene in chromosome region 22pter-22q11.2. (6/933)

Ependymomas are glial tumours of the brain and spinal cord. The most frequent genetic change in sporadic ependymoma is monosomy 22, suggesting the presence of an ependymoma tumour suppressor gene on that chromosome. Clustering of ependymomas has been reported to occur in some families. From an earlier study in a family in which four cousins developed an ependymoma, we concluded that an ependymoma-susceptibility gene, which is not the NF2 gene in 22q12, might be located on chromosome 22. To localize that gene, we performed a segregation analysis with chromosome 22 markers in this family. This analysis revealed that the susceptibility gene may be located proximal to marker D22S941 in 22pter-22q11.2. Comparative genomic hybridization showed that monosomy 22 was the sole detectable genetic aberration in the tumour of one of the patients. Loss of heterozygosity studies in that tumour revealed that, in accordance to Knudson's two-hit theory of tumorigenesis, the lost chromosome 22 originated from the parent presumed to have contributed the wild-type allele of the susceptibility gene. Thus, our segregation and tumour studies collectively indicate that an ependymoma tumour suppressor gene may be present in region 22pter-22q11.2.  (+info)

Detection of circulating tumour cells in patients with breast or ovarian cancer by molecular cytogenetics. (7/933)

Detection of micrometastases in patients with solid tumours may aid the establishment of prognosis and development of new therapeutic approaches. This study was designed to investigate the presence and frequency of tumour cells in the peripheral blood (PB) of patients with breast or ovarian cancer by using a combination of magnetic activated cell sorting (MACS) and fluorescence in situ hybridization (FISH). Separated tumour cell and PB-samples from 48 patients (35 breast cancers, 12 ovarian tumours, one uterine sarcoma) were analysed for the presence of numerical aberrations of chromosomes 7, 12, 17 and 17 q11.2-q12. Twenty-five patients had primary disease and 23 had relapsed. The technique allows the detection of one tumour cell in 106 normal cells. Circulating tumour cells were detected in 35/48 cases (17 patients had relapsed and 13 primary carcinoma with lymph node or solid metastases) by the expression of anti-cytokeratin and the presence of numerical chromosomal abnormalities. PB-tumour cells of patients with a primary carcinoma and without solid metastases had a significantly lower percentage of chromosomal aberrations, especially for chromosome 12 (P = 0.035; P = 0.038) compared to those with relapsed disease and solid metastases. Detection and quantification of minimal residual disease may monitor the response to cytotoxic or hormonal therapy and may identify women at risk of relapse.  (+info)

Neocentromere formation in a stable ring 1p32-p36.1 chromosome. (8/933)

Neocentromeres are functional centromeres formed in chromosome regions outside the normal centromere domains and are found in an increasing number of mitotically stable human marker chromosomes in both neoplastic and non-neoplastic cells. We describe here the formation of a neocentromere in a previously undescribed chromosomal region at 1p32-->p36.1 in an oligospermic patient. Cytogenetic GTL banding analysis and the absence of detectable fluorescence in situ hybridisation (FISH) signals using telomeric probes indicate the marker to be a ring chromosome. The chromosome is negative for CBG banding and is devoid of detectable centromeric alpha satellite and its associated centromere protein CENP-B, suggesting activation of a neocentromere within the 1p32-36.1 region. Functional activity of the neocentromere is shown by the retention of the ring chromosome in 97% of the patient's lymphocytes and 100% of his cultured fibroblasts, as well as by the presence of key centromere binding proteins CENP-E, CENP-F, and INCENP. These results indicate that in addition to CENP-A, CENP-C, and CENP-E described in earlier studies, neocentromere activity can further be defined by CENP-F and INCENP binding. Our evidence suggests that neocentromere formation constitutes a viable mechanism for the mitotic stabilisation of acentric ring chromosomes.  (+info)

TY - JOUR. T1 - Molecular cytogenetic analysis of clustered sporadic and familial renal cell carcinoma-associated 3q13 similar to q22 breakpoints. AU - Bodmer, D. AU - Janssen, [No Value]. AU - Jonkers, Y. AU - van den Berg, E. AU - Dijkhuizen, T. AU - Debiec-Rychter, M. AU - Schoenmakers, E. AU - van Kessel, AG. PY - 2002/7/15. Y1 - 2002/7/15. N2 - We describe several relatives within one renal cell cancer (RCC) family sharing a constitutional t(2;3) (q35;q21). Based on molecular studies on several independent primary tumors in this family, a causative role for this translocation in tumor development was suggested. Subsequent positional cloning of the 3q21 chromosomal breakpoint revealed that this breakpoint disrupts a novel gene, DIRC2 (disrupted in renal cancer 2). This gene encodes an evolutionary conserved transmembrane protein and represents a novel member of the MFS superfamily of transporters. To evaluate whether DIRC2 is also targeted in sporadic RCC cases with cytogenetically defined ...
Early buyers will receive 10% customization on reports.. The molecular cytogenetics market is projected to reach USD 2.52 Billion by 2021 from USD 1.55 Billion in 2016, at a CAGR of 10.1% from 2016 to 2021. The major factors driving the growth of this market are increasing incidence of genetic disorders and cancer, rapid growth in the aging population, and growing healthcare expenditure worldwide.. The report segments this market based on product, technique, application, end user, and region. Among the products, kits and reagents are expected to account for the largest share of the market. The high growth of kits and reagents segment can be attributed to the increasing number of rental agreements and increasing use of kits and reagents in diagnosis of genetic disorders and cancer worldwide.. On the basis of techniques, the molecular cytogenetics market is segmented into comparative genomic hybridization, fluorescence in situ hybridization, in situ hybridization, and other techniques.. Based on ...
The global molecular cytogenetics market was valued at USD 817.5 million in 2015. The increasing incidence of congenital & genetic disorders and the subsequent rise in the early disease diagnostics is expected to boost the demand for molecular cytogenetics over the forecast period
Molecular Cytogenetics Market - Global industry segment analysis, regional outlook, share, growth; molecular cytogenetics market forecast 2016 to 2026 by future market insights
One of the worlds leading journals dedicated to cytogenetics and cytogenomics, Molecular Cytogenetics encompasses all aspects of chromosome biology and the ...
DISEASE CHARACTERISTICS: - Diagnosis of 1 of the following hematologic malignancies: - Acute myeloid leukemia (AML) with or without history of myelodysplastic syndromes, meeting 1 of the following criteria: - In first complete remission (CR-1) with unfavorable cytogenetics and/or achieved CR-1 after ≥ 1 course of induction therapy - Secondary or treatment-related AML - In second or further complete remission - Relapsed with ≤ 20% blasts in the bone marrow AND no circulating blasts - Acute lymphoblastic leukemia (ALL), meeting 1 of the following criteria: - In CR-1 with unfavorable cytogenetics or elevated WBC at presentation OR failed to achieve CR-1 after ≥ 4 weeks of induction therapy - In second or further complete remission - Relapsed with ≤ 20% blasts in the bone marrow AND no circulating blasts - Other acute leukemic variants allowed at the discretion of the principal investigator - Chronic myelogenous leukemia (CML), meeting 1 of the following criteria: - In first chronic phase ...
Molecular Cytogenetics involves the study of chromosomes using molecular biology to understand the role and functions of genes and chromosomes. It plays a crucial role in the early diagnosis of a
Ive released our new design for the www.molcyt.com website. Like many other people with websites designed 5 years ago, the old design was very Web 1.0 with no feedbacks, social media links or other active content. And updates had been left for so long that many parts were out of date; technically, the HTML coding…
Global molecular cytogenetics market is expected to reach nearly USD 3.6 billion by 2022, according to a new report by Grand View Research, Inc. Increasing
Citation Machine™ helps students and professionals properly credit the information that they use. Cite your congressional publication in Molecular Cytogenetics format for free.
A comprehensive service which includes the various cytogenetic analysis techniques which is of great use within the field of translational research for characterising cytogenetic alterations both in humans and mice. It uses conventional cytogenetic techniques, FISH, spectral karyotyping (SKY) and microarray techniques by means of GeneChip hybridisation (Affymetrix Platform®) (SAM).. This platform offers scientific and technological support both for designing analysis strategy and for interpreting the results obtained. The final results are obtained from the analysis of the partial results obtained through different cytogenetic techniques (including microarrays) which complement each other. This platform is offered to the researchers of the various centres which make up the PRBB as well as the rest of the scientific community.. Services offered. ...
15 NCCN Guidelines for Patients ® : Follicular Lymphoma, Grade 1-2, 2017 2 Treatment planning 16 Medical history 17 Physical exam 17 Blood tests 19 Imaging tests 20 Bone marrow exam 21 Heart tests 21 Fertility and pregnancy 22 Review ...
Principal Investigator:KONDO Katsuhiko, Project Period (FY):2002 - 2005, Research Category:Grant-in-Aid for Scientific Research (A), Section:海外学術, Research Field:生物資源科学
Cell culture services can be used to produce the appropriate material for cytogenetic analysis from the investigators original specimen or sample. For example, the core can produce metaphases for cytogenetic analysis or karyotypes from an investigators cell line of interest.. In addition, the core can initiate the culturing of raw specimens, such as tumors, without subsequent cytogenetic analysis for the investigator. A range of tissues, animal models and culture systems are commonly used by the Cytogenetics Core.. ...
Information on the University of Washington and the Department of Pathology Cytogenetics Gallery. Includes informative description of Cytogenetics.
Information on the University of Washington and the Department of Pathology Cytogenetics Gallery. Includes informative description of Cytogenetics.
TeachMeFinance.com is an informational website, and should not be used as a substitute for professional medical, legal or financial advice. Information presented at TeachMeFinance.com is provided on an AS-IS basis. Please read the disclaimer for details. ...
The biopsy shows classic features of a follicular lymphoma. The nodular germinal center-like architecture and cytomorphology along with the corroborative phenotypic profile is typical for this form of B cell neoplasia. In this case, the neoplastic cells expressed CD10, Bcl-6, and Bcl-2. In this regard, the differential diagnosis is largely between a grade II nodal follicular
Supplementary Material for: Cytogenetic Characterization and Fluorescence in situ Hybridization of (GATA)10 Repeats on Established Primary Cell Cultures from Indian Water Snake (Natrix piscator) and Indian Mugger (Crocodylus palustris) Embryos
Diagnosis Code C82.13 information, including descriptions, synonyms, code edits, diagnostic related groups, ICD-9 conversion and references to the diseases index.
Diagnosis Code C82.11 information, including descriptions, synonyms, code edits, diagnostic related groups, ICD-9 conversion and references to the diseases index.
Free, official coding info for 2021 ICD-10-CM C82.26 - includes detailed rules, notes, synonyms, ICD-9-CM conversion, index and annotation crosswalks, DRG grouping and more.
Free, official coding info for 2021 ICD-10-CM C82.14 - includes detailed rules, notes, synonyms, ICD-9-CM conversion, index and annotation crosswalks, DRG grouping and more.
TY - CHAP. T1 - Induction of chromosome damage by ultraviolet light and caffeine. T2 - Correlation of cytogenetic evaluation and flow karyotype. AU - Cremer, C.. AU - Cremer, T.. AU - Gray, Joe. PY - 1982. Y1 - 1982. UR - http://www.scopus.com/inward/record.url?scp=0020062161&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=0020062161&partnerID=8YFLogxK. M3 - Chapter. C2 - 7075394. AN - SCOPUS:0020062161. VL - 2. SP - 287. EP - 290. BT - Cytometry. ER - ...
Climate Proofing of Food Crops, through genetic improvement for adaptation, is an important, medium-term, objective to ensure food-security and increase production while enhancing the sustainability of agriculture. The IAEA has a Coordinated Research Project discussing this topic (archive version). In the YouTube video here, I discuss some of the challenges plant researchers are addressing, and…
Publications page. IGENZ is a diagnostic laboratory providing molecular cytogenetics FISH testing. We provide innovative genetic solutions to assist in the diagnosis and prognosis of diseases
Við fengum tilkynningu um áhugaverða ráðstefnu á sviði litningarannsókna í plöntum. Hér fylgir stutt lýsing á ensku um ráðstefnuna, og viðhangandi er PDF veggspjald.. PLANT MOLECULAR CYTOGENETICS IN GENOMIC AND POSTGENOMIC ...
Contributing reviewers The Editors of Molecular Cytogenetics would like to thank all our reviewers who have contributed to the journal in volume 6 (2013).
Fish Cytogenetics http://ecx.images-amazon.com/images/I/41RtoqjwlUL._SS500_.jpg By E Pisano (Editor), C. Ozouf-Costaz (Editor), F. Foresti (Editor)
KARYO LTD was founded in 2008. Since then we provide services of high quality in the fields of genetic material analysis to the health providers. Our strong commitment remains the reliability and validity of our results, along with fast response and low end user price.. ...
Human karyotype is usually studied by classical cytogenetic (banding) techniques. To perform it, one has to obtain metaphase chromosomes of mitotic cells. This leads to the impossibility of analyzing all the cell types, to moderate cell scoring, and to the extrapolation of cytogenetic data retrieved from a couple of tens of mitotic cells to the whole organism, suggesting that all the remaining cells possess these genomes. However, this is far from being the case inasmuch as chromosome abnormalities can occur in any cell along ontogeny. Since somatic cells of eukaryotes are more likely to be in interphase, the solution of the problem concerning studying postmitotic cells and larger cell populations is interphase cytogenetics, which has become more or less applicable for specific biomedical tasks due to achievements in molecular cytogenetics (i.e. developments of fluorescence in situ hybridization -- FISH, and multicolor banding -- MCB). Numerous interphase molecular cytogenetic approaches are restricted
Fluorescence and genomic in situ hybridization (FISH and GISH) were used to establish the cytogenetic constitution of two wheat × Thinopyrum intermedium partial amphiploids H95 and 55(1-57). Both partial amphiploids are high-protein lines having resistance to leaf rust, yellow rust and powdery mildew and have in total 56 chromosomes per cell. Repetitive DNA probes (pTa71, Afa family and pSc119.2) were used to identify the individual wheat chromosomes and to reveal the distribution of these probes within the alien chromosomes. FISH detected 6B tetrasomy in H95 and a null (1D)-tetrasomy (1B) in 55(1-57). GISH was carried out using biotin labeled Th. intermedium DNA and digoxigenin labeled Pseudoroegneria spicata DNA as probes, subsequently. GISH results revealed 44 wheat chromosomes and four Thinopyrum chromosome pairs, including three S and one J chromosome pairs in line H95. Line 55(1-57), contained 42 wheat chromosomes and six Th. intermedium pairs, including two S and one JS pairs. ...
We describe the chromosomal location of GC-rich regions, 28S and 5S rDNA, core histone genes, and telomeric sequences in the veneroid bivalve species Venerupis aurea and Tapes (Venerupis) rhomboides,
Proliferation and cytogenetic analysis of hairy cell leukemia upon stimulation via the CD40 antigen.: Using the CD40 system, in vitro proliferation of hairy cel
Integrated Oncology, a division of LabCorp, has an immediate opening for a Cytogenetics Director in Phoenix, AZ. Integrated Oncology is a national specialty reference laboratory providing state-of-the-art diagnostic oncology services. We provide a comprehensive cancer-testing center in which cytogeneticists and molecular geneticists work closely with pathologists, flow cytometry analysts and immunohistochemistry histologists to provide high quality oncology testing services. ABMGG Board-certified Clinical Cytogenetics directors or Active Candidates (board eligible) are encouraged to apply.. The Cytogenetics Director will be responsible for the management of technical and scientific operation within an assigned clinical Cytogenetics and FISH Laboratory department, including accurate reporting of patient results, case review, and reviewing validation data.. Responsibilities:. ...
Zejuan Li, Tobias Herold, Chunjiang He, Peter J.M. Valk, Ping Chen, Vindi Jurinovic, Ulrich Mansmann, Michael D. Radmacher, Kati S. Maharry, Miao Sun, Xinan Yang, Hao Huang, Xi Jiang, Maria Cristina Sauerland, Thomas Büchner, Wolfgang Hiddemann, Abdel Elkahloun, Mary Beth Neilly, Yanming Zhang, Richard A. ...
Bakker, B., van den Bos, H., Spierings, D. C. J. & Foijer, F., 5-Jul-2019, In : Molecular Cytogenetics. 12, 1 p.. Research output: Contribution to journal › Meeting Abstract › Academic ...
The list of publications gives a selection covering the fields of interest in Applied Optics, Digital Image Analysis, Bioinformatics, Biophysics and Biophotonics, Biomolecular Labelling Techniques, and applications in Molecular Cytogenetics and Nuclear Genome Structure Research.. ...
Rainbow Scientific, Inc. (RSI) is a distributor of state-of-the-art scientific products to molecular cytogenetics, clinical chemistry, pathology and hemostasis laboratories across North America.
Rainbow Scientific, Inc. (RSI) is a distributor of state-of-the-art scientific products to molecular cytogenetics, clinical chemistry, pathology and hemostasis laboratories across North America.
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Read Cytogenetic characterisation of the ornamental freshwater fish, Piabucus melanostomus (Iguanodectinae) from Brazilian wetlands and its relation with species of Characidae basal group, Reviews in Fish Biology and Fisheries on DeepDyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips.
BACKGROUND AND OBJECTIVE: Cytogenetic analysis of acute leukemia yields important information which has been demonstrated to be correlated to patient survival. A reference laboratory was created in order to perform karyotype analysis on all cases of acute leukemia enrolled in the AIEOP (Associazione Italiana Emato-Oncologia Pediatrica) protocols. METHODS: From January 1990 to December 1995, 1115 samples of children with ALL or AML were sent in for cytogenetic analysis. The results of cell cultures were screened in the Reference Laboratory and then the fixed metaphases were sent to one of the six cytogenetic laboratories for analysis. RESULTS: The leukemic karyotypes of 556 patients were successfully analyzed. An abnormal clone was detected in 49% of cases of ALL and in 66% of AML. In ALL the most frequent abnormality was 9p rearrangement. Other recurrent abnormalities were t(9;22), t(4;11) and t(1;19). In AML t(8;21), t(15;17) and 11q23 rearrangement were the most frequent structural ...
BULGULAR: Seksen iki hastan n 11 i (%13,41) WT1 mutasyonlar n ta maktayd . Mutasyonlar exon 7 (n=7), exon 9 (n=2), exon 8 (n=1) ve exon 3 te (n=1) tespit edildi, ancak exon 1 veya 2 de tespit edilmedi. WT1 mutasyonunu ta yanlar ile ta mayanlar aras nda ya , cinsiyet, French-American-British (FAB) alt tipleri ve ind ksiyon tedavisindeki ba ar a s ndan istatistiksel anlaml farkl l k saptanmad (p=0.966; 2%8.6 vs. %29.3). WT1 mutasyonu olan hastalarda genel sa kal m mutasyonu olmayanlara g re daha d k bulundu (HR=1.38; %95 CI 4.79-6.86; p=0.004 ...
Cytogenetic analysis of the bone marrow may contribute significant prognostic information in multiple myeloma. The most significant cytogenetic abnormality appears to be deletion of 17p13. This abnorm... more
Živilė Čiuladaitė, Eglė Preikšaitienė, Jūratė Kasnauskienė, Algirdas Utkus, Loreta Cimbalistienė, Aušra Matulevičienė, Agnė Pečiulytė, Laima Ambrozaitytė, Beata Aleksiūnienė, Vaidas Dirsė, Vaidutis Kučinskas Abstract Molecular karyotyping is recently developed and rapidly progressing high technology of molecular cytogenetics, which erased the landmarks between cytogenetics and molecular genetics, enhances our understanding of the complexity of the human genome,…. ...
Molecular Cytogenetics and Multiplex Reverse-Transcriptase Polymerase Chain Reaction for Risk Stratification in Acute Myeloid Leukemia ...
GENOMIC REORGANIZATION OF SPECIES 2N = 20 OF ARACHIS SECTION Germán Robledo & Guillermo Seijo IBONE. Corrientes. Argentina Genome types A, B and D of section Arachis were originally established on the basis of karyotype morphology and cross compatibility assays of a few species. Currently. 26 species with 2n = 2x = 20 are included in the section, which were assigned to the A and B genomes. However, the interspecific hybrids fertility is not consistent with this genomic scheme, and the preliminary studies of molecular cytogenetics on a few species suggest a more heterogeneous karyotype. Therefore, in order to reappraise the genomic composition of the section we conducted a detailed karyotypic characterization of these species by analyzing the distribution patterns of C-DAPI+ heterochromatin and ribosomal genes by FISH. This study revealed a high karyotype variability, upon which five karyotypic groups were established. Each one has a distinctive structural organization. Two of these groups ...
The Ph chromosome is the most frequent rearrangement in adult ALL. some patients have had both B-cell and myeloid markers . Because of the high frequency of the BCR/ABL rearrangement and its dire clinical consequences, molecular studies using RT-PCR should be routinely performed at diagnosis when clinical suspicion is high and cytogenetic analysis is nondiagnostic.. ...
The Ph chromosome is the most frequent rearrangement in adult ALL. some patients have had both B-cell and myeloid markers . Because of the high frequency of the BCR/ABL rearrangement and its dire clinical consequences, molecular studies using RT-PCR should be routinely performed at diagnosis when clinical suspicion is high and cytogenetic analysis is nondiagnostic.. ...
Clinical researchers can obtain a complete view of cancer cytogenetics by combining next-generation sequencing (NGS) and microarrays.
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Expertises: Karyotype analysis; Cytogenetic biodosimetry; In vitro testing of genotoxic and cytotoxic potential of chemical ... Projects: Analysis of K2(B3O3F4OH) bioactive and medical potential; (ongoing project). Analysis of natural bioactive compounds ... Cytogenetic and genotoxicological analysis of bioactive potential of certain physical, chemical and biological agents, and ... Cytotoxicity and genotoxicity analysis of natural and synthetic food colorants in FB&H; (2011-2012) Financed by Federal ...
A classical and molecular-cytogenetic analysis. Pl. Syst. Evolution 252: 97-109.. ... However, extensive DNA-analyses have shown that this group is polyphyletic. Lilium bosniacum Beck ex Fritsch 1909 Section 3b ... phylogenetic analysis of Lilium section Liriotypus (Liliaceae) using sequences of the nuclear ribosomal transcribed spacers, In ...
"Profiling cytogenetic diversity with entropy-based karyotypic analysis". J. Theor. Biol. 234 (4): 487-95. doi:10.1016/j.jtbi. ... These analyses offer an explanation for the findings that there are no common mutations shared by most cancers. The state of a ... Cytogenetic studies localized the region to the long arm of chromosome 13, and molecular genetic studies demonstrated that ... Beggs AD, Jones A, El-Bahrawy M, El-Bahwary M, Abulafi M, Hodgson SV, Tomlinson IP (2013). "Whole-genome methylation analysis ...
Érica Cunha Issa, Wilham Jorge, José Robson Bezerra Sereno (2005). Cytogenetic and molecular analysis of the Pantaneiro cattle ...
"Cytogenetic and Flow Cytometry Analysis of Iranian Rosa spp". Floriculture and Ornamental Biotechnology. 3: 71-74 - via ...
While cytogenetics is the study of chromosomes and their structure, cytogenetic testing involves the analysis of cells in the ... Rao PH, Nandula SV, Murty VV (2007). "Molecular cytogenetic applications in analysis of the cancer genome". In Fisher PB (ed ... Analysis of a patient's chromosome structure can reveal causative changes. New molecular biology methods developed in the past ... "Cytogenetic testing , DermNet NZ". www.dermnetnz.org. Retrieved 2020-04-02. Banerjee D (15 January 2013). Array comparative ...
with cytogenetic and immunohistological analysis in a 28-year-old man. The case described by Navarro, et al. showed MYCN ... Cowan J, Dayal Y, Schaitzberg S, Tischler AS (1997). Cytogenetic and immunohistological analysis of an adult anaplastic ...
"Limitations Associated with Analysis of Cytogenetic Data for Biological Dosimetry". Radiation Research. 174 (4): 403-14. ... "The assessment of radiation hazardous areas considering the spectral analysis of the neutron component of a tactical neutron ...
Cytogenetic analysis of sterility initiated by X-rays in males. [In Russian.] Biologicheskii Zhurnal, 6: 816-836. LaChance, L. ...
The motivation underlying the development of CGH stemmed from the fact that the available forms of cytogenetic analysis at the ... Levy B, Dunn TM, Kern JH, Hirschhorn K, Kardon NB (2002). "Delineation of the dup5q phenotype by molecular cytogenetic analysis ... and therefore that CGH was a highly useful cytogenetic analysis tool. Initially, the widespread use of CGH technology was ... and has an improved resolution of 5-10 megabases compared to the more traditional cytogenetic analysis techniques of giemsa ...
... a Cytogenetic Analysis (PDF) (Report). Massey University. Retrieved 19 April 2018. "Al Rowland in New Zealander of 2009 list". ... Analysis of data in The Lancet and The BMJ Davison, John (9 June 1998). "No damages for nuclear test victims". The Independent ... An analysis of illnesses in veterans of Grapple and other weapons tests produced statistics that are hard to interpret. The ... A Cytogenetic Study of New Zealand Nuclear Test Veterans (PDF) (MSc). Massey University. Retrieved 19 April 2018. Wahab, M.A.; ...
doi:10.1002/j.1537-2197.1982.tb13303.x. Jackson, R. C.; Casey, Jane (1982). "Cytogenetic Analyses of Autopolyploids: Models and ... Jackson, R. C.; Hauber, Donald P. (1994). "Quantitative cytogenetic analyses of autoploid and alloploid taxa in the Helianthus ... Jackson, R. C. (1988). "A Quantitative Cytogenetic Analysis of an Intersectional Hybrid in Helianthus (Compositae)". American ... Jackson, R. C.; Hauber, Donald P. (1982). "Autotriploid and Autotetraploid Cytogenetic Analyses: Correction Coefficients for ...
Stutz, H. C. (1957). "A Cytogenetic Analysis of the Hybrid Secale cereale L. × Secale montanum Guss. and its Progeny". Genetics ...
"Cytogenetic Analysis by Chromosome Painting Using Dop-Pcr Amplified Flow-Sorted Chromosomes". Gene Chromosome Canc. 4 (3): 257- ... Hatch, F. T.; Bodner, A. J.; Mazrimas, J. A.; Moore, D. H. (1976). "Satellite DNA and cytogenetic evolution. DNA quantity, ... These maps also provide an unprecedented opportunity to use multispecies analysis as a tool to infer karyotype evolution. ... When many species covering different mammalian orders are compared, this analysis can provide information on trends and rates ...
Alves, Anderson Luís; Oliveira, Claudio; Foresti (2005). "Comparative cytogenetic analysis of eleven species of subfamilies ...
2006). "Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region". European Journal ...
November 2003). "Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen ... these are common and relatively non-specific indications for cytogenetic analysis, and the extent to which the duplication of ...
"Comparative cytogenetic analysis of eleven species of subfamilies Neoplecostominae and Hypostominae (Siluriformes: Loricariidae ...
Cytogenetic analysis: a method to discover abnormal arrangement of chromosomes in the tumor cells. MRI: an instrument that uses ... Common testaments for EGCTs are a physical examination, tumor marker test, immunohistochemistry, cytogenetic analysis, MRI, ... a clinicopathological and immunohistochemical analysis of 48 cases at a single Chinese institution". International Journal of ...
October 2000). "Persistent polyclonal B lymphocytosis: morphological, immunological, cytogenetic and molecular analysis of an ... Chromosome analysis has detected an isochromosome +i(3q), with or without premature chromosome condensation. Also, a t(14;18)( ...
2012). "Integrated mutational and cytogenetic analysis identifies new prognostic subgroups in chronic lymphocytic leukemia". ... 2011). "Analysis of the coding genome of diffuse large B-cell lymphoma". Nat Genet. 43 (9): 830-837. doi:10.1038/ng.892. PMC ... Recently, he has been working on the application of topological data analysis to large scale genomic data and transcriptomic ... Rabadan is interested in understanding the evolution of infectious agents through the analysis of their genome, in particular ...
Haizel T, Lim YK, Leitch AR, Moore G (2005). "Molecular analysis of holocentric centromeres of Luzula species". Cytogenetic and ... A detailed molecular analysis of the structure of holocentric chromosomes is currently available for the nematode ... For most of the species, data about holocentrism are related to the analysis of the behaviour of chromosomes during anaphase ... They have been described for the first time in cytogenetic experiments dating from 1935 and, since this first observation, the ...
Bakkaloglu B, O'Roak BJ, Louvi A et al.. Molecular cytogenetic analysis and resequencing of Contactin Associated Protein-Like 2 ... Genetic linkage analysis has been inconclusive; many association analyses have had inadequate power. For each autistic ... Skaar DA, Shao Y, Haines JL, et al.. Analysis of the RELN gene as a genetic risk factor for autism. Mol Psychiatry. 2005;10(6): ... Ylisaukko-oja T, Alarcón M, Cantor RM, et al.. Search for autism loci by combined analysis of Autism Genetic Resource Exchange ...
"Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders". American ... and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene". American Journal of Human Genetics. 82 (1): ...
... a new generation of probes for genetic and cytogenetic analyses". Annales de Génétique. 47 (4): 349-58. doi:10.1016/j.anngen. ...
Demonstrated by Chromosomal Analyses". Cytogenetic and Genome Research. 147 (1): 37-42. doi:10.1159/000351210. PMID 23735513. ... Chromosomal analysis has shown that the genus Dynastes in fact originated from South America. Not much is known about the life ... and geographic analyses". Miscellaneous Publications, Museum of Zoology, University of Michigan. 206: 1-32 - via ResearchGate. ...
... inferred from cytogenetic analysis of eleven species of Bovidae". Cytogenetic and Genome Research. 122 (1): 41-54. doi:10.1159/ ... One cytogenetic analysis concerning the phylogenetic position on the saola suggests the species could be related to buffalo. ... The majority of phylogenetic work based on ribosomal DNA, chromosomal analysis, autosomal introns and mitochondrial DNA has ...
... inferred from cytogenetic analysis of eleven species of Bovidae". Cytogenetic and Genome Research. 122 (1): 41-54. doi:10.1159/ ... "A Molecular Cytogenetic Analysis of the Tribe Bovini (Artiodactyla: Bovidae: Bovinae) with an Emphasis on Sex Shromosome ... chromosomal analysis, autosomal introns and mitochondrial DNA has recovered three distinctive subtribes of Bovini: Pseudorygina ...
"Molecular cytogenetic analysis of clustered sporadic and familial renal cell carcinoma-associated 3q13 approximately q22 ...
... analyses of c-Jun and DJ-1 proto-oncogenes". Cytogenetic and Genome Research. 127 (2-4): 79-93. doi:10.1159/000297715. PMID ... John W. Merck (1997). "A phylogenetic analysis of the euryapsid reptiles". Journal of Vertebrate Paleontology. 17 (Supplement ... Hildebran, M. & Goslow, G. (2001): Analysis of Vertebrate Structure. 5th edition. John Wiley & sons inc, New York. 635 pp. ISBN ... Roos, Jonas; Aggarwal, Ramesh K.; Janke, Axel (Nov 2007). "Extended mitogenomic phylogenetic analyses yield new insight into ...
... (FISH) is a molecular cytogenetic technique that uses fluorescent probes that bind to only ... In the eventual analysis, these fragments were put into order by digesting a copy of each fragment into still smaller fragments ... Variations on probes and analysis[edit]. FISH is a very general technique. The differences between the various FISH techniques ... The technology has potential applications in cancer diagnosis,[14] neuroscience, gene expression analysis,[15] and companion ...
For cytogenetic banding nomenclature, see article locus. *^ a b These values (ISCN start/stop) are based on the length of bands ... 2004). "The sequence and analysis of duplication-rich human chromosome 16". Nature. 432 (7020): 988-94. doi:10.1038/nature03187 ... International Standing Committee on Human Cytogenetic Nomenclature (2013). ISCN 2013: An International System for Human ... Cytogenetic Nomenclature (2013). Karger Medical and Scientific Publishers. ISBN 978-3-318-02253-7.. ...
Analysis of histone modifications in embryonic stem cells (and other stem cells) revealed many gene promoters carrying both ... Also in the 1960s, Vincent Allfrey and Alfred Mirsky had suggested, based on their analyses of histones, that acetylation and ... "Genomic maps and comparative analysis of histone modifications in human and mouse". Cell. 120 (2): 169-81. doi:10.1016/j.cell. ... but did not have available the kind of detailed analysis that later investigators were able to conduct to show how such ...
"Comparative Molecular Field Analysis and Comparative Molecular Similarity Indices Analysis of Thalidomide Analogues as ... risk myelodysplastic syndromes associated with a deletion 5q cytogenetic abnormality with or without additional cytogenetic ...
For cytogenetic banding nomenclature, see article locus. *^ a b These values (ISCN start/stop) are based on the length of bands ... Wilson MA, Makova KD (2009). "Genomic analyses of sex chromosome evolution". Annual Review of Genomics and Human Genetics. 10 ( ... International Standing Committee on Human Cytogenetic Nomenclature (2013). ISCN 2013: An International System for Human ... Genetic Genealogy: About the use of mtDNA and Y chromosome analysis in ancestry testing ...
Cytogenetic/FISH analysis attaches fluorescently labels DNA markers to a denatured chromosome and is then examined under ... such as sequence analysis, deletion/duplication analysis, and cytogenetics/ FISH analysis. Sequence analysis of exon 1 (TWIST1 ... Cytogenetic testing and direct gene testing can also be used to study gene/chromosome defects. Cytogenetic testing is the study ... Deletion/duplication analysis identifies mutations in the TWIST1 gene that are not readily detected by sequence analysis. ...
A large number of different methods have been developed for chromosome analysis:. *Chromosome analysis using a karyotype ... Cytogenetic Diagnostics. BSc, MSc, PhD, MD, DO, MD-PhD, or DO-PhD. Individuals who specialize in Cytogenetics typically work in ... Urine organic acid analysis can be either performed using quantitative or qualitative methods, but in either case the test is ... Chromosome analysis is also performed in the prenatal setting to determine whether a fetus is affected with aneuploidy or other ...
SMS is usually confirmed by blood tests called chromosome (cytogenetic) analysis and utilize a technique called FISH ( ...
Cytogenetic analysis has shown different proportions and frequencies of genetic abnormalities in cases of ALL from different ... analysis of cytogenetic data from patients treated on the Medical Research Council (MRC) UKALLXII/Eastern Cooperative Oncology ... August 2005). "Cytogenetic characterization of a BCR-ABL transduced mouse cell line". Cancer Genetics and Cytogenetics. 161 (1 ... In regards to genetic analysis, cases can be stratified according to ploidy, number of sets of chromosomes in the cell, and ...
Using kinship analysis he showed ancestral genes could only partly explain some "clusters" and these genes were of small effect ... and psychoneuroendocrinology before beginning cytogenetic-environment studies in early-onset Alzheimer's Disease (EOAD). In the ...
Analysis[edit]. Telomerase[edit]. The HeLa cell line was derived for use in cancer research. These cells proliferate abnormally ... "Comprehensive and definitive molecular cytogenetic characterization of HeLa cells by spectral karyotyping". Cancer Res. 59 (1 ... "Induction of apoptosis by ethanolic extract of mango peel and comparative analysis of the chemical consists of mango peel and ... "Comparative analysis and integrative classification of NCI60 cell lines and primary tumors using gene expression profiling ...
Molecular cytogenetic analysis of recently evolved Tragopogon (Asteraceae) allopolyploids reveal a karyotype that is additive ...
Zhang XHD (2011). Optimal High-Throughput Screening: Practical Experimental Design and Data Analysis for Genome-scale RNAi ... Cytogenetic and Genome Research. 114 (2): 96-125. doi:10.1159/000093326. PMID 16825762. S2CID 29910065.. ... This site is thought to form a nucleation site for the binding of the siRNA to its mRNA target.[45] Analysis of the inhibitory ... Haley B, Zamore PD (July 2004). "Kinetic analysis of the RNAi enzyme complex". Nature Structural & Molecular Biology. 11 (7): ...
... was the most common cytogenetic abnormality found in a recent study using ultra-high resolution chromosomal microarray analysis ... many of which can be identified by chromosome microarray analysis. The 15q11.2 BP1-BP2 microdeletion was reported to account ... "Refining analyses of copy number variation identifies specific genes associated with developmental delay". Nature Genetics. 46 ... "Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution ...
et al.: Molecular and morphological analyses of the sportive lemurs (Family Megaladapidae: Genus Lepilemur) reveals 11 ... C. Rabarivola, A. Zaramody, J.-L. Fausser, N. Andriaholinirina, C. Roos, C. Zinner, H. Marcel & Y. Rumpler: Cytogenetic and ...
... analyses of c-Jun and DJ-1 proto-oncogenes". Cytogenetic and Genome Research 127 (2-4): 79-93. doi:10.1159/000297715. PMID ... 2007). "Extended mitogenomic phylogenetic analyses yield new insight into crocodylian evolution and their survival of the ...
BRCA 1 has the cytogenetic location 17q21 or the q arm of Chromosome 17 at position 21. BRCA 2 has the cytogenetic location ... In the US in 2010, single-site testing had a retail cost of US$400 to $500, and full-length analysis cost about $3,000 per gene ... How quickly results are returned depends on the test-single-site analysis requires less lab time-and on the infrastructure in ... a meta-analysis". Expert Review of Anticancer Therapy. 11 (8): 1197-1207. doi:10.1586/era.11.38. PMID 21916573. S2CID 31012428. ...
The advance of genomic analysis technologies and further data on the relatedness of Musa species, formulated Häkkinen's two ... "Molecular and Cytogenetic Characterization of Wild Musa Species". PLOS ONE. 10 (8): e0134096. doi:10.1371/journal.pone.0134096 ...
Wuitschick JD, Karrer KM (1999). "Analysis of genomic G + C content, codon usage, initiator codon context and translation ... "Integration of the cytogenetic map with the draft human genome sequence". Hum. Mol. Genet. 12 (9): 1037-44. PMID 12700172. doi ... "High guanine-cytosine content is not an adaptation to high temperature: a comparative analysis amongst prokaryotes". Proc. ... "Gene-centric association analysis for the correlation between the guanine-cytosine content levels and temperature range ...
Wilson, M. A.; Makova, K. D. (2009). "Genomic analyses of sex chromosome evolution". Annual Review of Genomics and Human ... Cytogenetic and Genome Research 99 (1-4): 303-309. doi:10.1159/000071608. PMID 12900579. ... "Genome analysis of the platypus reveals unique signatures of evolution". Nature 453 (7192): 175-183. doi:10.1038/nature06936 ...
Kleinheinz A, Schulze W, Schulze (1994)։ «Klinefelter's syndrome: New and rapid diagnosis by PCR analysis of XIST gene ... Molecular cytogenetic diagnosis of Klinefelter's syndrome in men more frequently detects sex chromosome mosaicism than ... classical cytogenetic methods]»։ Cas. Lek. Cesk. (Czech) 138 (8): 235-8։ PMID 10510542 ...
... and for the analysis of patient records, and was aided by an IBM computer.[21] Procedural information was dropped in the ... 88230-88299) cytogenetic studies. *(88300-88399) surgical pathology. *(88720-88741) in vivo (transcutaneous) lab procedures ...
"Modern Genetic Analysis: Mitotic Crossing-Over". New York: W. H. Freeman.. .mw-parser-output cite.citation{font-style:inherit ... Cytogenetic and Genome Research. 107: 146-59. doi:10.1159/000080593.. ...
Auerbach, C (1973). "Analysis of the storage effect of diepoxybutane (DEB)". Mutation Research. 18: 129-141. doi:10.1016/0027- ... Auerbach, C.; Moutschen-Dahmen, M.; Moutschen, J. (1977). "Genetic and cytogenetic effects of formaldehyde and related ... Auerbach, C (1970). "Analysis of a Case of mutagen specificity in Neurosopra crassa III. Fractionated treatment with ... Auerbach, C.; Ramsey, D. (1970). "Analysis of a case of mutagen specificity in Neurospora crassa. II Interaction between ...
In the past, the observation of the Barr body was common practice, as well.[36] To confirm mosaicism, analysis of the karyotype ... Kurková S; Zemanová Z; Hána V; Mayerová K; Pacovská K; Musilová J; Stĕpán J; Michalová K (April 1999). "[Molecular cytogenetic ... According to a 2008 meta-analysis, the prevalence of the syndrome has increased over the past decades; however, this does not ... The symptoms of KS are often variable; therefore, a karyotype analysis should be ordered when small testes, infertility, ...
Genetic analysis has shown that the original hexaploid wheats were the result of a cross between a tetraploid domesticated ... Feldman, M.; Levy, A.A. (2005). "Allopolyploidy - a shaping force in the evolution of wheat genomes". Cytogenetic and Genome ...
"An Introduction to Genetic Analysis (7th ed.).. *^ a b c d Foulkes WD, Real FX (April 2013). "Many mosaic mutations". Current ... Cai L, Wang P (March 1995). "Induction of a cytogenetic adaptive response in germ cells of irradiated mice with very low-dose ... "Whole-genome sequencing analysis reveals high specificity of CRISPR/Cas9 and TALEN-based genome editing in human iPSCs". Cell ...
The Association of Cytogenetic Technologists, Raven Press, New York. *^ Stebbins, G.L. (1971). Chromosomal evolution in higher ... Thus, chromosomes or chromosome sections can be visualized and identified, allowing for the analysis of chromosomal ... 2005). ISCN 2005: An International System for Human Cytogenetic Nomenclature. Switzerland: S. Karger AG. ISBN 978-3-8055-8019-9 ... Multicolor FISH and the older spectral karyotyping are molecular cytogenetic techniques used to simultaneously visualize all ...
2001). "Clinical impact of molecular and cytogenetic findings in synovial sarcoma". Genes Chromosomes Cancer. 31 (4): 362-72. ... "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A ...
Source for information on Cytogenetic Analysis: Gale Encyclopedia of Cancer dictionary. ... Cytogenetic analysis Definition Cytogenetics is the analysis of blood or bone marrow cells that reveals the organization of ... Cytogenetic analysis. Definition. Cytogenetics is the analysis of blood or bone marrow cells that reveals the organization of ... Cytogenetic analysis directed toward leukemia or other cancer cells is considered to have an abnormal result when a specific, ...
Some specific cytogenetic abnormalities are closely, and sometimes uniquely, associated with morpho ... General aspects of cytogenetic analysis in hematologic malignancies. Authors. Yanming Zhang, MD. Yanming Zhang, MD ... Comparison of karyotype analysis and RT-PCR for AML1/ETO in 204 unselected patients with AML. Ann Hematol 1998; 76:139. ... Refinement of cytogenetic classification in acute myeloid leukemia: determination of prognostic significance of rare recurring ...
... * Peter Jeppesen MRC Human Genetics Unit, Western General ... Cytogenetic analysis of histone H4 acetylation, therefore, had not only verified that acetylation was linked in a very ... Whereas this is not a problem, and may be a positive advantage, for cytogenetic analysis by techniques such as chromosome ... Surrallés, J., Jeppesen, P., Morrison, H. and Natarajan, A.T. (1996). Analysis of loss of inactive X chromosomes in interphase ...
Alves AL, Oliveira C and Foresti F (2005) Comparative cytogenetic analysis of eleven species of subfamilies Neoplecostominae ... in this study we undertook a cytogenetic analysis of five species in this genus. We provide information on the karyotypic ... Thus, if the cytogenetic hypotheses are congruent with the biological evolution of Hypostomus, then Amazon basin species should ... Cytogenetic studies have been very useful taxonomically since several fish groups identified only on the basis of morphological ...
... Jue ... The tumors were examined with a battery of cytogenetic, immunohistochemical, and molecular assays. Results. The malignant cells ...
Rapid Analysis of Chromosome Aberrations in Mouse B Lymphocytes by PNA-FISH, In Vivo Model for Testing Effect of Hypoxia on ... Analysis of the Ambient Particulate Matter-induced Chromosomal Aberrations Using an In Vitro System, Detection of Inter- ... Single-cell Analysis of Chromatin Modification and Nuclear Architecture in Whole-mount Ovules in Arabidopsis, Heterogeneity ... Video articles in JoVE about cytogenetic analysis include Expedited Radiation Biodosimetry by Automated Dicentric Chromosome ...
Integrating linkage and comparative maps with cytogenetic map analyses assigned two linkage groups to their particular ... comparative and cytogenetic map analyses. In total, 503 F2 interspecific hybrid individuals were genotyped using 7,624 single ... Comparative analysis demonstrated that ~57% of the sequenced loci in L. campestre were congruent with Arabidopsis thaliana (L ... Flow cytometric analysis revealed that both species possess 2C roughly 0.4 picogram DNA. ...
While several computer software applications have been used to facilitate such quantitative karyotype analysis, most of these ... MicroMeasure: a new computer program for the collection and analysis of cytogenetic data Genome. 2001 Jun;44(3):439-43. ... MicroMeasure is a new image analysis application that may be used to collect data for a wide variety of chromosomal parameters ... While several computer software applications have been used to facilitate such quantitative karyotype analysis, most of these ...
The most significant cytogenetic abnormality appears to be deletion of 17p13. This abnorm... more ... Cytogenetic analysis of the bone marrow may contribute significant prognostic information in multiple myeloma. ... What is the role of cytogenetic analysis of the bone marrow in the evaluation of multiple myeloma (MM)?. Updated: Mar 06, 2020 ... Cytogenetic analysis of the bone marrow may contribute significant prognostic information in multiple myeloma. The most ...
Feature Papers represent the most advanced research with significant potential for high impact in the field. Feature Papers are submitted upon individual invitation or recommendation by the scientific editors and undergo peer review prior to publication. The Feature Paper can be either an original research article, a substantial novel research study that often involves several techniques or approaches, or a comprehensive review paper with concise and precise updates on the latest progress in the field that systematically reviews the most exciting advances in scientific literature. This type of paper provides an outlook on future directions of research or possible applications. ...
Cytogenetic analysis of segregation distortion in Drosophila melanogaster: the cytological organization of the Responder (Rsp) ... Cytogenetic analysis of segregation distortion in Drosophila melanogaster: the cytological organization of the Responder (Rsp) ... Cytogenetic analysis of segregation distortion in Drosophila melanogaster: the cytological organization of the Responder (Rsp) ... Cytogenetic analysis of segregation distortion in Drosophila melanogaster: the cytological organization of the Responder (Rsp) ...
A group of distinguished investigators has reported in Ophthalmology seven years of experience with routine cytogenetic ... They conclude that cytogenetic analysis of chromosomes 3 and 8 enhances prediction of disease-specific mortality after ... Cytogenetic analysis enhances prediction of disease-specific mortality after treatment of uveal melanoma ... Cytogenetic studies showed monosomy 3 in 168 tumors (47.2%) and chromosome 8 gains in 132 tumors (37.1%), with 3 copies of ...
... in which at least 7 types of 45S rDNAs were identified by restriction site analysis. For 5S rDNA, repeat... ... Hasterok R, Wolny E, Kulak S, Zdziechowicz A, Maluszynska J, Heneen WK (2005) Molecular cytogenetic analysis of Brassica rapa- ... Molecular cloning of Tulipa fosteriana rDNA and subsequent FISH analysis yields cytogenetic organization of 5S rDNA and 45S ... For example, we identified 71 sites of 5S rDNA and 10 sites of 45S rDNA in Red Emperor. Additionally, FISH analyses enabled ...
Behavioral and Cytogenetic Analysis of the cacophony Courtship Song Mutant and Interacting Genetic Variants in Drosophila ... Behavioral and Cytogenetic Analysis of the cacophony Courtship Song Mutant and Interacting Genetic Variants in Drosophila ... Behavioral and Cytogenetic Analysis of the cacophony Courtship Song Mutant and Interacting Genetic Variants in Drosophila ... Behavioral and Cytogenetic Analysis of the cacophony Courtship Song Mutant and Interacting Genetic Variants in Drosophila ...
... which are reflected by balanced translocations at the cytogenetic level. These changes might be useful diagnostic and ... High-resolution molecular cytogenetic analysis of Wilms tumors highlights diagnostic difficulties among small round cell kidney ... Many solid tumors exhibit characteristic gene fusions, which are reflected by balanced translocations at the cytogenetic level ...
The analysis of chromosomes was performed through Ag-staining, C-banding, chromomycin A3 and DAPI staining, and fluorescent in ... A cytogenetic investigation was carried out on specimens of Liza ramada, a mugilid species common in the Mediterranean sea. ... Cytogenetic analysis of Liza ramada (Pisces, Perciformes) by different staining techniques and fluorescent in situ ... A cytogenetic investigation was carried out on specimens of Liza ramada, a mugilid species common in the Mediterranean sea. The ...
Cytogenetic and molecular analysis of male infertility. Y chromosome deletion during nonobstructive azoospermia and severe ... Semen analysis was done in each case to determine the spermatogenic status. Individuals were subjected to detailed clinical ... Fluorescence in situ hybridization analysis was done in some cases to identify the percentage of mosaic cell lines and any ... Polymerase chain reaction microdeletion analysis was done in 140 cytogenetically normal cases. Of the 140 cases, 8 showed ...
Compared to the conventional cytogenetic analysis, the major advantages of microarray methodologies include: assessing the ... The Genomic Era of Clinical Oncology: Integrated Genomic Analysis for Precision Cancer Care. Surrey L.F. · Luo M. · Chang F. · ... A novel NOTCH1-ROS1 fusion detected by the NGS analysis in a patient with angiosarcoma. The red arrow line indicates the ... Forero-Castro M, Robledo C, Benito R, Abáigar M, África Martin A, et al: Genome-wide DNA copy number analysis of acute ...
Cytogenetic and molecular analysis of a family with three brothers afflicted with germ-cell cancer. Clin Genet 2004;65:32-9. ... Classic G-banding cytogenetic analysis and SKY were done on metaphase spreads of cultured peripheral blood lymphocytes from ... Constitutional Cytogenetic Analysis in Men with Hereditary Testicular Germ Cell Tumor: No Evidence of Disease-Related ... Constitutional Cytogenetic Analysis in Men with Hereditary Testicular Germ Cell Tumor: No Evidence of Disease-Related ...
Metanephric adenoma: the utility of immunohistochemical and cytogenetic analyses in differential diagnosis, including solid ... To aid in resolving this differential diagnosis, we investigated the utility of immunohistochemical and molecular analyses in ... However, if there is a different immunostaining pattern, then we recommend FISH analysis. ... two tumors were reclassified as papillary renal cell carcinoma after cytogenetic workup. It is recommended that all adult cases ...
Cytogenetic analyses using fluorescence in situ hybridization methods confirmed the haploid chromosome number of n = 30 in both ... as revealed by molecular cytogenetic analyses and a high-density linkage map. 2018. Picq, S.; Lumley, L.; Šíchová, J.; Laroche ... through a combination of molecular cytogenetic analyses and construction of a high-density linkage map based on single ... Synteny analysis based on a comparison of the Bombyx mori genome and the C. fumiferana linkage map revealed the presence of a ...
Molecular and cytogenetic analyses of stably and unstably expressed transgene loci in tobacco.. V A Iglesias, E A Moscone, I ... Molecular and cytogenetic analyses of stably and unstably expressed transgene loci in tobacco. ... Molecular and cytogenetic analyses of stably and unstably expressed transgene loci in tobacco. ... Molecular and cytogenetic analyses of stably and unstably expressed transgene loci in tobacco. ...
Molecular and cytogenetic analysis of an interstitial 20p deletion associated with syndromic intrahepatic ductular hypoplasia ( ... Molecular and cytogenetic analysis of an interstitial 20p deletion associated with syndromic intrahepatic ductular hypoplasia ( ... High-resolution chromosome analysis of a 19-year-old female proband with syndromic intrahepatic ductular hypoplasia (Alagille ...
title,Cytogenetic analyses of five amazon lizard species of the subfamilies Teiinae and Tupinambinae and review of karyotyped ... TI - Cytogenetic analyses of five amazon lizard species of the subfamilies Teiinae and Tupinambinae and review of karyotyped ... Article: Cytogenetic analyses of five amazon lizard species of the subfamilies Teiinae and Tupinambinae and review of ... Cytogenetic analyses of five amazon lizard species of the subfamilies Teiinae and Tupinambinae and review of karyotyped ...
Using cytogenetic and biochemical markers: Avena pilosa M. B. and A. clauda Dur., Russian Journal of Genetics" on DeepDyve, the ... "Comparative analysis of diploid species of Avena L. ... Determined by Molecular Cytogenetic Analysis of Total Genomic, ... Comparative analysis of diploid species of Avena L. Using cytogenetic and biochemical markers: Avena pilosa M. B. and A. clauda ... Comparative analysis of diploid species of Avena L. Using cytogenetic and biochemical markers: Avena pilosa M. B. and A. clauda ...
Cytogenetic Analysis): Nucleolar and Extranucleolar RNA Synthesis, Russian Journal of Developmental Biology" on DeepDyve, the ... Activity of Embryonic Mink Genome during Diapause (Cytogenetic Analysis): Nucleolar and Extranucleolar RNA Synthesis. Isakova, ... Activity of Embryonic Mink Genome during Diapause (Cytogenetic Analysis). Number of Cells and Size of Cell Nuclei in ... Activity of Embryonic Mink Genome during Diapause (Cytogenetic Analysis): Nucleolar and... Isakova, G.; Zakharenko, L.; ...
Clinical spectrum and cytogenetic analysis of Down syndrome patients attending a referral clinic in Jordan ... Clinical spectrum and cytogenetic analysis of Down syndrome patients attending a referral clinic in Jordan ... Clinical spectrum and cytogenetic analysis of Down syndrome patients attending a referral clinic in Jordan ... Cytogenetic testing results revealed that 28 (85%) had trisomy 21; 3 (9%) had translocation, 1 of which was a de novo 21,21 ...
We report the cytogenetic analysis of a parotid myoepithelioma and discuss the putative origin for the cells with cytogenetic ... Cytogenetic analysis of a primary salivary gland myoepithelioma. https://edrn.nci.nih.gov/data-and-resources/publications/ ... Our analysis shows 12q12 involved in a translocation with a previously unreported partner (1q), and nonrandom del(9)(q22.1q22.3 ... Previous cytogenetic and molecular genetic studies have mainly investigated pleomorphic adenomas and reported recurring ...
Do recorded doses overestimate true doses received by Chernobyl cleanup workers? Results of cytogenetic analyses of Estonian ...
Our analysis did not reveal any chromosomal rearrangements that could differentiate among them. Moreover, screening for ... as well as by a cytogenetic comparison between the dorsalis complex and the genetically close species, B. tryoni, and, (b) a ...
  • Cytogenetics is the analysis of blood or bone marrow cells that reveals the organization of chromosomes. (encyclopedia.com)
  • Cells that are about to divide and which have condensed and organized their chromosomes into pairs are most suitable for this type of analysis. (encyclopedia.com)
  • Cytogenetic analysis directed toward leukemia or other cancer cells is considered to have an abnormal result when a specific, distinctive genetic alteration is seen in the configuration of these chromosomes. (encyclopedia.com)
  • Comparing the distribution of a chromosomal protein with known cytogenetic markers on metaphase chromosomes can provide an important and potentially highly informative first source of data on the function of the protein under consideration. (scielo.br)
  • The methods that will be described here were developed to retain as near a native chromosome structure as possible during the immunolabelling process, while still allowing individual chromosomes to be identified subsequently by more traditional cytogenetic methods. (scielo.br)
  • Integrating linkage and comparative maps with cytogenetic map analyses assigned two linkage groups to their particular chromosomes. (nature.com)
  • They conclude that cytogenetic analysis of chromosomes 3 and 8 enhances prediction of disease-specific mortality after treatment of uveal melanoma but must be interpreted together with tumor diameter and cell type. (aao.org)
  • The analysis of chromosomes was performed through Ag-staining, C-banding, chromomycin A3 and DAPI staining, and fluorescent in situ hybridization with ribosomal genes. (biomedsearch.com)
  • To determine the existence and histological distribution of cell subpopulations with numerical chromosome aberrations, interphase cytogenetic analysis using probes specific for chromosomes 1, X, and Y was applied to paraffin tissue sections of 23 cases: 12 cases of complete mole, 3 cases of partial mole, and 8 cases of abortions. (mysciencework.com)
  • Chromosome analysis looks for changes to a person's chromosomes. (cancer.ca)
  • GTG-banding of Metaphase chromosomes Chromosome Analysis G-banding provides a visual examination of the entire genome It therefore provides the best coverage but not the best resolution Banding resolution differs from preparation to preparation Diagnostic Limits of Conventional Cytogenetic Analysis How Does Banding Resolution Impact Diagnostic Ability? (docplayer.net)
  • 8 Embryo Biopsy Acid Tyrodes Embryo Biopsy Courtesy of Kathleen Miller, RMA of NJ Courtesy of Kathleen Miller, RMA of NJ Aneuploidy Analysis of Embryos for Chromosomes 13, 16, 18, 21 & 22 Multiple Hybridizations Add Diagnostic Power Chr. (docplayer.net)
  • Cytogenetic studies look for any abnormal chromosomes (where genes are contained) that can lead to multiple myeloma. (osu.edu)
  • Fluorescent in situ hybridization, or FISH, is one kind of cytogenetic analysis that studies chromosomes for certain changes. (osu.edu)
  • Some specific cytogenetic abnormalities are closely, and sometimes uniquely, associated with morphologically and clinically distinct subsets of leukemia or lymphoma, as well as with their prognosis. (uptodate.com)
  • Because of the ease of obtaining and processing bone marrow or peripheral blood samples, more information is available about the relationship between cytogenetic abnormalities and the pathogenesis and natural history of the leukemias than for other malignancies. (uptodate.com)
  • Although not as well defined as in other hematologic malignancies, such as acute leukemia, risk-adapted therapy based on cytogenetic abnormalities is at the forefront of myeloma research. (medscape.com)
  • Several cytogenetic abnormalities have been associated with sporadic TGCT, notably somatic isochromosome 12p in tumor tissue, and the germ-line chromosome abnormality 47,XXY (Klinefelter syndrome), which is associated with an increased risk of mediastinal germ cell tumors ( 11 ). (aacrjournals.org)
  • There were no detectable cytogenetic abnormalities in these 17 individuals. (aacrjournals.org)
  • Based on finding one chromosome abnormality among 45 subjects studied with standard cytogenetic techniques of comparable quality, and given that the general population incidence of chromosome abnormalities is 1/160 ( 21 ), the relative risk = (1/45)/(1/160) = 3.6 (exact 95% confidence interval, 0.09-19). (aacrjournals.org)
  • Multiplex ligation-dependent probe amplification analysis of uveal melanoma with extraocular extension demonstrates heterogeneity of gross chromosomal abnormalities. (semanticscholar.org)
  • Methods: In this study, the chromosomal abnormalities were analyzed by bone marrow cytogenetic in 45 APL patients and FLT3 internal tandem duplications (ITD) screening by fragment length analysis and FLT3 D835 mutation by melting curve analysis were screened in 23 APL samples. (ac.ir)
  • Results: Cytogenetic study showed 14.3% trisomy 8 and 17.1% chromosomal abnormalities other than t(1517). (ac.ir)
  • Abnormalities found in the in blood and bone marrow biopsy, as well as factors from the cytogenetic analysis and molecular genetic findings, help determine prognosis and whether you would benefit from certain therapies. (dana-farber.org)
  • Karyotype analysis identified 16 chromosomal abnormalities. (springer.com)
  • Besides the 14 cases of chromosome abnormalities consistent with karyotype analysis, CMA identified an additional 20 cases (13.2%) of abnormal copy number variations (CNVs), of which 13 were pathogenetic CNVs, 5 were variations of uncertain clinical significance (VOUS) and 2 were benign CNVs. (springer.com)
  • abstract = "Cytogenetic and flow cytometric analyses were performed on 38 human spontaneous abortions in an attempt to obtain information on karyotype abnormalities and to compare the two approaches of analysis. (elsevier.com)
  • Flow cytometric analysis showed a diploid distribution, whereas cytogenetic analysis revealed chromosomal abnormalities in only 4/19 cases. (elsevier.com)
  • Cytogenetic results were obtained from 76 cases (93.8%), of which 33 cases (43.4%) showed chromosome abnormalities . (bvsalud.org)
  • Little, however, is known about cytogenetic abnormalities in patients with light chain amyloidosis. (haematologica.org)
  • Given the low clonal plasma cell burden and low proliferative index in AL, little is known about cytogenetic abnormalities in this disorder. (haematologica.org)
  • Design and Methods We performed fluorescence in situ hybridization of 5q31 in 716 patients, divided into two groups: group A patients (n=637) in whom the 5q deletion had not been detected at diagnosis by conventional banding cytogenetics and group B patients (n=79), in whom cytogenetic analysis had revealed the 5q deletion (positive control group). (haematologica.org)
  • Research activities of the Laboratory for Cytogenetics and Genotoxicology are based on: Cytogenetic and genotoxicological analysis of bioactive potential of certain physical, chemical and biological agents, and Cytogenetic and genotoxicological monitoring of human populations in Bosnia and Herzegovina. (wikipedia.org)
  • Expert activity of the Laboratory for Cytogenetics and Genotoxicology mainly includes chromosome analysis and karyotyping of human samples. (wikipedia.org)
  • Whereas this is not a problem, and may be a positive advantage, for cytogenetic analysis by techniques such as chromosome banding and fluorescence in situ hybridization (FISH), it is clearly a barrier to understanding the in vivo organization of chromosomal components. (scielo.br)
  • Aceto-orcein chromosome staining and fluorescence in situ hybridization (FISH) analyses confirmed that L. campestre , L. heterophyllum Benth. (nature.com)
  • Fluorescence in situ hybridization (FISH) analysis identified many rDNA sites located on each chromosome in the diploid genomes. (springer.com)
  • Fluorescence in situ hybridization analysis was done in some cases to identify the percentage of mosaic cell lines and any cryptic or low-level mosaicism. (springer.com)
  • Cytogenetic analyses using fluorescence in situ hybridization methods confirmed the haploid chromosome number of n = 30 in both sexes of C. fumiferana and showed, for the first time, that this species has a WZ/ZZ sex chromosome system. (gc.ca)
  • We suggest that fluorescence in situ hybridization of 5q31 should be performed in cases of a suspected '5q- syndrome' and/or if the cytogenetic study shows no metaphases or an aberrant karyotype with chromosome 5 involved (no 5q- chromosome). (haematologica.org)
  • By fluorescence-activated cell-sorting analysis of the cultured cells, and by immunophenotypic analysis of metaphase spreads, T-cell growth could be excluded and the HCL-lineage confirmed. (mysciencework.com)
  • Fluorescence In Situ Hybridization (FISH) is a powerful molecular/cytogenetic technique that utilizes a fluorescent-labeled DNA probe to ascertain the presence or absence of a particular segment of DNA. (geneticscenter.com)
  • 5 For the fluorescence in situ hybridisation analysis (FISH), the commercially available probe telomer 3p (digoxigenin labelled probe for locus D3S1444, Oncor) and a whole chromosome 3 probe (biotin labelled whole chromosome specific painting probe, Cambio) were used. (bmj.com)
  • The first report of metaphase analysis in AL was that made by Liang et al . (haematologica.org)
  • The value of this investigation is enhanced by the fact that the cytogenetic studies were performed as part of routine clinical practice and not under artificial research conditions. (aao.org)
  • Individuals were subjected to detailed clinical examination, family history, and endocrinological and cytogenetic study after consent from the patient. (springer.com)
  • Many clinical laboratories have already started adopting these technologies for cancer genomic analysis. (karger.com)
  • Molecular cytogenetic analysis of archival uveal melanoma with known clinical outcome. (semanticscholar.org)
  • This prospective investigation used clinical, pathologic, flow cytometric, cytogenetic, and molecular genetic variables as potential prognostic factors in 207 patients with newly diagnosed gliomas (153 astrocytic tumors of the fibrillary type, 31 oligodendrogliomas, and 23 pilocytic astrocytomas). (elsevier.com)
  • We present two cases of variant t(8;21) AML including clinical, cytogenetic, and molecular data. (frontiersin.org)
  • Why aren't cytogenetic analyses being implemented into clinical studies of CLL? (vjhemonc.com)
  • Panagiotis Baliakas, MD, PhD, from Uppsala University, Uppsala, Sweden, explains the reasons why cytogenetic analyses are seldom performed in clinical studies and diagnoses of chronic lymphocytic leukemia (CLL). (vjhemonc.com)
  • Clinical features and results of cytogenetic testing were recorded and tabulated. (aappublications.org)
  • Deletions of the distal 2q37 region involve the last cytogenetic band on the long arm of chromosome 2, 1) and the clinical features of terminal microdeletions of 2q37 were first described in 1989 by Gorski et al. (e-apem.org)
  • Whole-genome sequencing is a potential replacement for conventional cytogenetic and sequencing approaches, but its accuracy, feasibility, and clinical utility have not been demonstrated. (cdc.gov)
  • The cytogenetic results,along with clinical information including gestational age at the time of the miscarriage and maternal age , were compiled in a database. (bvsalud.org)
  • We have established quantitative PCR for diagnosis of deletions affecting MECP2 , and in this paper, we report a boy manifesting clinical features of Rett syndrome and a submicroscopic duplication within the cytogenetic band Xq28 encompassing the entire MECP2 gene. (bmj.com)
  • The tumors were examined with a battery of cytogenetic, immunohistochemical, and molecular assays. (hindawi.com)
  • Many solid tumors exhibit characteristic gene fusions, which are reflected by balanced translocations at the cytogenetic level. (nih.gov)
  • Of the six tumors with discordant immunophenotype, two tumors were reclassified as papillary renal cell carcinoma after cytogenetic workup. (sigmaaldrich.com)
  • Treatment and diagnosis of various lymphomas, leukemias, and solid tumors rely on the cytogenetic analysis. (zionmarketresearch.com)
  • Analysis of tumor cell lines and primary bladder tumors identified 16 different regions of amplification, many in loci not previously known to be amplified. (elsevier.com)
  • Flow cytometric analysis revealed that both species possess 2C roughly 0.4 picogram DNA. (nature.com)
  • A cytogenetic investigation was carried out on specimens of Liza ramada, a mugilid species common in the Mediterranean sea. (biomedsearch.com)
  • Synteny analysis based on a comparison of the Bombyx mori genome and the C. fumiferana linkage map revealed the presence of a neo-Z chromosome in the latter species, as previously reported for other tortricid moths. (gc.ca)
  • Comparative analysis of diploid species of Avena L. Using cytogenetic and biochemical markers: Avena pilosa M. B. and A. clauda Dur. (deepdyve.com)
  • The cytogenetic map allowed the location of 12 genomic regions to be compared between these species. (au.dk)
  • In this manuscript, molecular cytogenetic analyses were used to identify the closely related species in genus Epinephelus. (peerj.com)
  • In addition, cytogenetic consider as important for a better definition of the specific epithet for these cryptic species. (peerj.com)
  • The results are clear and well representative for cytogenetic characterization species. (peerj.com)
  • This manuscript described molecular cytogenetic analyses to identify the closely related species Epinephelus bruneus and E. moara including chromosomal karyotypes, NORs and 18S rDNA distribution patterns, heterochromatin (interstitial C-bands) and distribution pattern of telomeric sequence. (peerj.com)
  • Cytogenetic analysis is an informative classical approach to understanding the relationships among members in a group of closely related species of mosquitoes. (ird.fr)
  • Analysis of chromosome morphology in the two species revealed a limited similarity in the banding patterns. (ird.fr)
  • In this study, molecular cytogenetic analyses were firstly performed to identify the closely related species Epinephelus bruneus and E. moara in this genus. (telomerescience.com)
  • In addition, molecular cytogenetic analyses are useful in species differentiation and phylogenetic reconstruction in groupers. (telomerescience.com)
  • The present paper reports the cytogenetic mapping of the 5S rRNA genes from 18 South American, 22 African and one Asian species and the 18S rRNA genes from 3 African species. (biomedcentral.com)
  • While several computer software applications have been used to facilitate such quantitative karyotype analysis, most of these programs are limited by design for specific types of analyses, or can be used only with specific hardware configurations. (nih.gov)
  • Given the paucity of data about potential genetic mechanisms in hereditary TGCT (HTGCT), we did conventional karyotype analysis and spectral karyotyping (SKY) in the largest cohort of HTGCT cases studied to date, seeking clues to the location of as-yet-unidentified testicular cancer susceptibility genes. (aacrjournals.org)
  • G-banded karyotype analysis found clonal numerical and/or structural chromosomal aberrations in 74.2% of cases. (koreascience.or.kr)
  • Chromosomal microarray (CMA) can detect smaller genomic deletions and duplications than traditional karyotype analysis. (elsevier.com)
  • Karyotype analysis was performed to exclude fetal abnormal karyotype. (researchsquare.com)
  • We also performed karyotype analysis and found 3 abnormal karyotypes of trisomy 21. (researchsquare.com)
  • DNA ploidy and G0/G1 exceeding rates were determined using image and flow cytometric analyses on paraffin-embedded tissues of 166 cases: 71 cases of complete mole, 20 cases of partial mole, and 75 cases of abortions. (mysciencework.com)
  • In the remaining 19 cases, analyzed with both approaches, the comparison of DNA estimations using cytogenetic and flow cytometric analyses showed good agreement. (elsevier.com)
  • Moreover, cytogenetic and flow cytometric analyses were performed on 2 amniotic cell cultures, and concordant results were obtained. (elsevier.com)
  • Therefore, this study was designed to identify the frequency of cytogenetic and submicroscopic interstitial deletions in azoospermia factor loci in infertile Indian males. (springer.com)
  • Array-CGH analyses confirmed 23.6 Mb duplication on 10q25.1-q26.3 and 0.9 Mb deletions on 6p25.3, 19.9 Mb duplication on 3p24.3-p26.3 and 0.25 Mb deletion on 20p13 and 12.5 Mb duplication on 3q27.2-q29 and 1.9 Mb deletions on 22q13.2-q13.33 in the four patients, respectively. (biomedcentral.com)
  • Metanephric adenoma: the utility of immunohistochemical and cytogenetic analyses in differential diagnosis, including solid variant papillary renal cell carcinoma and epithelial-predominant nephroblastoma. (sigmaaldrich.com)
  • To evaluate the prognostic significance of cytogenetic findings in clear cell renal cell carcinoma (RCC), cytogenetic results of 118 primary RCCs were evaluated in relation to classical indicators of prognosis and overall survival. (aacrjournals.org)
  • The goal of this study was to evaluate immunohistochemical and cytogenetic features and their prognostic value in papillary renal cell carcinoma (PRCC) subtypes. (aacrjournals.org)
  • Field cress ( Lepidium campestre L.), despite its potential as a sustainable alternative oilseed plant, has been underutilized, and no prior attempts to characterize the genome at the genetic or molecular cytogenetic level have been conducted. (nature.com)
  • Our principal goal was to construct a genetic map using integrated approaches of genetic, comparative and cytogenetic map analyses. (nature.com)
  • Previous cytogenetic and molecular genetic studies have mainly investigated pleomorphic adenomas and reported recurring specific chromosomal alterations at 8q12 and 12q13-q15 regions. (nih.gov)
  • This investigation provides further evidence that flow cytometry, cytogenetic, and molecular genetic factors that may have prognostic value in patients with gliomas can be identified. (elsevier.com)
  • As cytogenetic and molecular techniques have become more sophisticated, the number of genetic syndromes attributed to these microdeletions has increased. (aappublications.org)
  • This study aimed to evaluate the applicability of chromosomal microarray analysis (CMA), rather than traditional chromosome analysis, in prenatal diagnosis of ventricular septal defects (VSDs) for superior prenatal genetic counseling and to reveal a potential correlation between submicroscopic chromosomal aberrations and VSDs. (springer.com)
  • The 73AD salivary chromosome region of Drosophila melanogaster was subjected to mutational analysis in order to (1) generate a collection of chromosome breakpoints that would allow a correlation between the genetic, cytological and molecular maps of the region and (2) define the number and gross organization of complementation groups within this interval. (syr.edu)
  • Cytogenetic analysis is found to be useful in providing genetic counseling. (manipal.edu)
  • The focus of scientific research is directed towards genetic analysis of archaeological skeletal samples, forensic genetic parameters testing of Bosnian population, as well as towards a target oriented expansion of previously initiated population genetic research. (wikipedia.org)
  • We studied the genome of an important North American boreal forest pest, the spruce budworm, Choristoneura fumiferana , through a combination of molecular cytogenetic analyses and construction of a high-density linkage map based on single nucleotide polymorphism (SNP) markers obtained through a genotyping-by-sequencing (GBS) approach. (gc.ca)
  • Molecular cytogenetic markers related to prognosis in hematological malignancies. (koreascience.or.kr)
  • The deletion was situated on the maternally derived chromosome and by molecular analysis the deletion breakpoint was shown to be between DNA markers D3S3589 and D3S1263. (bmj.com)
  • Among multigene families, ribosomal RNA (rRNA) genes are the most frequently studied and have been explored as cytogenetic markers to study the evolutionary history of karyotypes among animals and plants. (biomedcentral.com)
  • These findings suggest that cytogenetic studies should be considered as part of the histopathologic evaluation for all choroidal melanomas. (aao.org)
  • These findings imply that karyotypic complexity and recurrent cytogenetic aberrations may be of prognostic significance. (aacrjournals.org)
  • Cytogenetic findings unique to each type such as trisomy 17 in papillary type 1 and the loss of 1p and 3p in type 2, may ultimately lead to future type-specific therapy. (aacrjournals.org)
  • We analyzed the performance of whole-genome sequencing by comparing our results with findings from cytogenetic analysis and targeted sequencing. (cdc.gov)
  • FISH analysis on monolayer interphase nuclei and metaphases harvested from bone marrow cultures was undertaken using commercially available FISH probes in the AML panel (Vysis, Abbott Park, IL). (frontiersin.org)
  • Micro-FISH probes have been used successfully to determine the derivation of chromosome segments unidentifiable by conventional cytogenetic analysis. (arizona.edu)
  • In this study, conventional cytogenetic techniques (Giemsa, CBG- and GTG-banding, Ag-NOR), CMA 3 -DAPI staining, and fluorescent in situ hybridization (FISH) with telomeric DNA probes were used to examine for the first time the karyotypes of lesser gymnures of group Hylomys suillus Müller, 1840 from northern and southern Vietnam. (nsu.ru)
  • DNA cytometric and interphase cytogenetic analyses of paraffin. (mysciencework.com)
  • DNA cytometric and interphase cytogenetic analyses of paraffin-embedded hydatidiform moles and hydropic abortions. (mysciencework.com)
  • The combined application of DNA cytometric and interphase cytogenetic analyses was used to find objective criteria for the differential diagnosis of complete hydatidiform mole, partial hydatidiform mole and hydropic abortion. (mysciencework.com)
  • DNA cytometric analysis, especially image DNA cytometric analysis with determination of the G0/G1 exceeding rate, and interphase cytogenetic analysis provide objective measurements which are contributory in the differential diagnosis between complete mole, partial mole, and hydropic abortion. (mysciencework.com)
  • Flow cytometric analysis was performed on all abortive samples. (elsevier.com)
  • In the 19 cases not analyzed by the cytogenetic approach, flow cytometric analysis showed 9 diploid and 10 aneuploid DNA distributions. (elsevier.com)
  • Conventional chromosome analysis revealed 46, XX. (e-apem.org)
  • Cytogenetic analysis of Liza ramada (Pisces, Perciformes) by different staining techniques and fluorescent in situ hybridization. (biomedsearch.com)
  • What is the role of cytogenetic analysis of the bone marrow in the evaluation of multiple myeloma (MM)? (medscape.com)
  • Cytogenetic analysis of the bone marrow may contribute significant prognostic information in multiple myeloma. (medscape.com)
  • We have done a thorough assessment of each type of PRCC and determined unique pathologic, immunohistochemical, and cytogenetic differences, and their relevance in predicting prognosis. (aacrjournals.org)
  • Therefore, the goals of this study were ( a ) to evaluate clinicopathologic features and their prognostic value in PRCC subtypes, ( b ) to define an immunohistochemical profile of type 1 from type 2 PRCC, ( c ) to analyze the relevance of protein expression in predicting prognosis, and ( d ) to describe cytogenetic aberrations and their effect on survival. (aacrjournals.org)
  • The most significant cytogenetic abnormality appears to be deletion of 17p13. (medscape.com)
  • Along with inv(16)(p13;q22)/t(16;16)(p13;q22), this cytogenetic abnormality has been shown to have a more favorable prognosis, especially when treated with high dose cytarabine based therapy ( 1 - 3 ). (frontiersin.org)
  • Our results confirmed that only a fraction of the clonal PC present in MGUS carried the cytogenetic abnormality. (aacrjournals.org)
  • ABSTRACT The spectrum of medical conditions and the cytogenetic profile in all children with Down syndrome attending a referral clinic in Amman, Jordan over a 1-year period was described. (who.int)
  • Cytogenetic and their prognostic value in childhood and adult acute lymphoblastic (ALL) excluding L3. (koreascience.or.kr)
  • Genomic analysis is essential for risk stratification in patients with acute myeloid leukemia (AML) or myelodysplastic syndromes (MDS). (cdc.gov)
  • The key market players that are involved in the cytogenetic systems market include Genial Genetics, MetaSystems, Cytocell Ltd., Applied Spectral Imaging, PerkinElmer Inc., Abbott Laboratories, ADS Biotec Inc., Laboratory Imaging s.r.o. (zionmarketresearch.com)
  • 81 cases of products of conception aborted spontaneously were collected From Nov. 1999 to May, 2004 in the cytogenetic laboratory at Kangnam St. Mary's Hospital , Catholic University Medical College. (bvsalud.org)
  • Laboratory for forensic genetics provides scientific approach to analysis of samples of different origin. (wikipedia.org)
  • Comparative analysis demonstrated that ~57% of the sequenced loci in L. campestre were congruent with Arabidopsis thaliana (L.) genome and suggested a novel karyotype, which predates the ancestral crucifer karyotype. (nature.com)
  • Comparative analyses in Lotus: the cytogenetic map of Lot. (au.dk)
  • A comparative cytogenetic map was built for Lotusuliginosus (2n = 12), expanding previous analyses that revealed intra- and interspecific chromosomal rearrangements in the model legume L. japonicus, L. filicaulis, and L. burttii. (au.dk)
  • Cytogenetic analyses of this neoplasm are rare to date and none comparative genomic hybridisation (CGH) analysis has been published. (semanticscholar.org)
  • Comparative analysis of the arm association suggests the occurrence of a whole-arm translocation between the two members of the group. (ird.fr)
  • Cytogenetic testing results revealed that 28 (85%) had trisomy 21 (3 had translocation and 2 showed mosaic pattern). (who.int)
  • We even found a fetus with DMD gene mutation and trisomy 21 in a same fetus by further analysis. (researchsquare.com)
  • High-resolution chromosome analysis of a 19-year-old female proband with syndromic intrahepatic ductular hypoplasia (Alagille syndrome, AWS) revealed an interstitial deletion of chromosome 20p with breakpoints provisionally located in or close to p11.22 and p12.2. (epfl.ch)
  • When patients are suspected of having a 2q37 deletion, high-resolution cytogenetic analysis is recommended. (e-apem.org)
  • A girl fulfilling four/five of six inclusion criteria and eight/nine of 11 supportive criteria for atypical Rett syndrome had a cytogenetic deletion of chromosome 3p, del(3)(pter→3p25.1∼25.2). (bmj.com)
  • SNP array analysis has identified a 0.93 Mb duplication at 7q36.1-q36.2 and a 2.2 Mb deletion at 12p13.1-p13.2 in the patient. (cdc.gov)
  • Molecular cytogenetic analysis of feline leukemia virus insertions in cat lymphoid tumor cells. (biomedsearch.com)
  • Cytogenetic analysis of a malignant triton tumor and a malignant peripheral nerve sheath tumor and a review of the literature. (semanticscholar.org)
  • Cytogenetic study of malignant triton tumor: a case report. (semanticscholar.org)
  • Twenty metaphases were karyotyped with GenASIs BandView Analysis System (Applied Spectral Imaging, Carlsbad, CA), and karyograms were described according to the International System for Human Cytogenetic Nomenclature 2016. (frontiersin.org)
  • The results of cytogenetic tests can help to confirm the diagnosis of a particular form of leukemia, and permit the best treatment to be selected for each patient. (encyclopedia.com)
  • Results were reported using the International System for Human Cytogenetic Nomenclature ( 17 ). (aacrjournals.org)
  • Additionally, FISH analyses enabled construction of karyotypes for these cultivars. (springer.com)
  • SNP array and cytogenetic analysis of a patient with unexplained mental retardation]. (cdc.gov)
  • We anticipate that CMA and NGS will soon become the major diagnostic means for cancer genomic analysis to meet the increasing demands of precision cancer care. (karger.com)
  • NGS technologies have transformed molecular genomic analysis by increasing the sequencing throughput and decreasing the cost by several orders of magnitude. (karger.com)
  • The present paper reinforces the notion that the integration of cytogenetic data and genomic analysis provides a more complete picture for understanding the organization of repeated sequences in the genome. (biomedcentral.com)
  • The cytogenetic analysis used in this study can promptly screen FeLV insertions and provide tags for identifying the novel common integration site. (biomedsearch.com)
  • In this study, Tulipa fosteriana was found to contain 45S rDNA repeat units of 9.7 and 9.5 kb, in which at least 7 types of 45S rDNAs were identified by restriction site analysis. (springer.com)
  • He also notes a parallel study being conducted in the European research organization, ERIC, that is currently evaluating methodologies similar to cytogenetic analyses that may be able to replace them. (vjhemonc.com)
  • In this study, we performed an economic analysis of cytogenetic technologies in the prenatal diagnosis of sonographically detected fetal anomalies comparing four strategies: (i) karyotype alone, (ii) CMA alone, (iii) karyotype and CMA, and (iv) karyotype followed by CMA if the karyotype was normal. (elsevier.com)
  • This study showed that CMA combined with cytogenetic analysis is particularly effective in identifying CNVs in fetuses with VSDs and can have an effect on obstetrical outcomes. (springer.com)
  • The cytogenetic study was performed according to the method described by Johannesson et al . (bmj.com)
  • It is of great significances to precisely analysis the chromosome variation to study the relationship between genotype and phenotype. (biomedcentral.com)
  • Insights into the structure of the spruce budworm (Choristoneura fumiferana) genome, as revealed by molecular cytogenetic analyses and a high-density linkage map. (gc.ca)
  • 90%), but subsequently, we examined the correlation between the proportion of PC with cytogenetic changes and the number of clonal PC present in the same sample, as measured by multiparametric flow cytometry. (aacrjournals.org)
  • Analysis of segmental duplications, mouse genome synteny and recurrent cancer-associated amplicons in human chromosome 6p21-p12. (semanticscholar.org)
  • These techniques can, in some cases, be more sensitive than cytogenetic approaches, and along with the large body of information derived from the human genome project, hold the promise or providing more accurate tests for diagnosis and treatment of cancer. (encyclopedia.com)
  • However, recent advances in molecular phylogenetics, among other approaches, have proved to be very informative in analyses of the origin and evolution of polyploid genomes. (biomedcentral.com)
  • Here we report the phylogenetic analyses of the internal transcribed spacers ITS1-5.8S-ITS2 of 35S rDNA and the non-transcribed spacer (NTS) region of 5S rDNA of A . × cornutum and its relatives of the section Cepa . (biomedcentral.com)
  • In essence, this type of testing is a hybrid approach that combines genetics, analysis of mutations, with examination of cells. (encyclopedia.com)
  • We adapted sample preparation, sequencing, and analysis to detect mutations for risk stratification using existing European Leukemia Network (ELN) guidelines and to minimize turnaround time. (cdc.gov)
  • Cytogenetic analysis focuses upon chromosomal rearrangements. (encyclopedia.com)
  • The data indicate that gain of 5q identifies a clinically favorable cytogenetic variant of clear cell RCC and demonstrate the impact of specific chromosome aberrations as additional prognostic indicators in clear cell RCC. (aacrjournals.org)
  • Artoni RF ( 2014 ) Peer Review #1 of 'Molecular cytogenetic analyses of Epinephelus bruneus and Epinephelus moara (Perciformes, Epinephelidae) (v0.1)' . (peerj.com)
  • The cytogenetic data suggested that the lineages of E. bruneus and E. moara were recently derived within the genus Epinephelus, and E. moara exhibited more plesiomorphic features than E. bruneus. (telomerescience.com)