Karyotyping: Mapping of the KARYOTYPE of a cell.Spectral Karyotyping: 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.Chromosome Aberrations: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.Chromosome Disorders: 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)Karyotype: 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)In Situ Hybridization, Fluorescence: 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.Prenatal Diagnosis: Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.Trisomy: The possession of a third chromosome of any one type in an otherwise diploid cell.Amniocentesis: Percutaneous transabdominal puncture of the uterus during pregnancy to obtain amniotic fluid. It is commonly used for fetal karyotype determination in order to diagnose abnormal fetal conditions.Aneuploidy: 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).Chromosome Banding: 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.Cytogenetics: 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.Fetal Diseases: Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES.Down Syndrome: 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)Cytogenetic Analysis: 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.Chorionic Villi Sampling: A method for diagnosis of fetal diseases by sampling the cells of the placental chorionic villi for DNA analysis, presence of bacteria, concentration of metabolites, etc. The advantage over amniocentesis is that the procedure can be carried out in the first trimester.Sex Chromosome Disorders: Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment).Ultrasonography, Prenatal: The visualization of tissues during pregnancy through recording of the echoes of ultrasonic waves directed into the body. The procedure may be applied with reference to the mother or the fetus and with reference to organs or the detection of maternal or fetal disease.Chromosome Painting: 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.Chromosomes, Human: 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.Comparative Genomic Hybridization: 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.Abnormal Karyotype: A variation from the normal set of chromosomes characteristic of a species.Pregnancy: The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.Translocation, Genetic: A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.Chromosomes, Human, Pair 18: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Ring Chromosomes: Aberrant chromosomes with no ends, i.e., circular.Chromosomes, Human, Pair 13: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Neck: The part of a human or animal body connecting the HEAD to the rest of the body.Sex Chromosome Aberrations: 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.Abnormalities, MultipleAzure Stains: PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.Chromosomes, Human, Pair 20: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.Chromosome Deletion: Actual loss of portion of a chromosome.Pregnancy Trimester, First: 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.Nectria: A genus of ascomycetous fungi in the family Nectriaceae, order HYPOCREALES. They are found as saprophytes on decaying wood or parasites of trees. Anamorphs include FUSARIUM and Cylindrocarpon.Chromosomes, Human, Pair 7: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Myelodysplastic-Myeloproliferative Diseases: Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE DISORDERS.Pregnancy, High-Risk: Pregnancy in which the mother and/or FETUS are at greater than normal risk of MORBIDITY or MORTALITY. Causes include inadequate PRENATAL CARE, previous obstetrical history (ABORTION, SPONTANEOUS), pre-existing maternal disease, pregnancy-induced disease (GESTATIONAL HYPERTENSION), and MULTIPLE PREGNANCY, as well as advanced maternal age above 35.Metaphase: 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.Chromosomes: 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)Crown-Rump Length: In utero measurement corresponding to the sitting height (crown to rump) of the fetus. Length is considered a more accurate criterion of the age of the fetus than is the weight. The average crown-rump length of the fetus at term is 36 cm. (From Williams Obstetrics, 18th ed, p91)Uniparental Disomy: The presence in a cell of two paired chromosomes from the same parent, with no chromosome of that pair from the other parent. This chromosome composition stems from non-disjunction (NONDISJUNCTION, GENETIC) events during MEIOSIS. The disomy may be composed of both homologous chromosomes from one parent (heterodisomy) or a duplicate of one chromosome (isodisomy).Maternal Age: The age of the mother in PREGNANCY.Nuchal Translucency Measurement: A prenatal ultrasonography measurement of the soft tissue behind the fetal neck. Either the translucent area below the skin in the back of the fetal neck (nuchal translucency) or the distance between occipital bone to the outer skin line (nuchal fold) is measured.Mycological Typing Techniques: Procedures for identifying types and strains of fungi.Pregnancy Trimester, Second: The middle third of a human PREGNANCY, from the beginning of the 15th through the 28th completed week (99 to 196 days) of gestation.Abortion, Habitual: Three or more consecutive spontaneous abortions.Intellectual Disability: 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)Nucleic Acid Hybridization: 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)Mosaicism: 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.Neoplasms, Adipose Tissue: Neoplasms composed of fatty tissue or connective tissue made up of fat cells in a meshwork of areolar tissue. The concept does not refer to neoplasms located in adipose tissue.Azoospermia: A condition of having no sperm present in the ejaculate (SEMEN).Genetic Testing: Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.Chromosomes, Human, Y: The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.Sex Chromosome Disorders of Sex Development: Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including MONOSOMY; TRISOMY; and MOSAICISM.Chromosomes, Human, Pair 5: One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).Gene Rearrangement: The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.Pregnancy Outcome: Results of conception and ensuing pregnancy, including LIVE BIRTH; STILLBIRTH; SPONTANEOUS ABORTION; INDUCED ABORTION. The outcome may follow natural or artificial insemination or any of the various ASSISTED REPRODUCTIVE TECHNIQUES, such as EMBRYO TRANSFER or FERTILIZATION IN VITRO.Chromosomes, Human, X: The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.Oligonucleotide Array Sequence Analysis: 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.Klinefelter Syndrome: A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).Chromosomes, Human, Pair 14: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 21: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Gestational Age: The age of the conceptus, beginning from the time of FERTILIZATION. In clinical obstetrics, the gestational age is often estimated as the time from the last day of the last MENSTRUATION which is about 2 weeks before OVULATION and fertilization.DNA, Fungal: Deoxyribonucleic acid that makes up the genetic material of fungi.Monosomy: The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.Chromosome Breakage: A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.Abortion, Spontaneous: Expulsion of the product of FERTILIZATION before completing the term of GESTATION and without deliberate interference.Myelodysplastic Syndromes: 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.Cytoplasmic Dyneins: Dyneins that are responsible for intracellular transport, MITOSIS, cell polarization, and movement within the cell.Chromosomes, Artificial, Bacterial: DNA constructs that are composed of, at least, a REPLICATION ORIGIN, for successful replication, propagation to and maintenance as an extra chromosome in bacteria. In addition, they can carry large amounts (about 200 kilobases) of other sequence for a variety of bioengineering purposes.Turner Syndrome: 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.Chromosomes, Human, Pair 8: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Sex Determination Analysis: Validation of the SEX of an individual by inspection of the GONADS and/or by genetic tests.Pulmonary Atresia: A congenital heart defect characterized by the narrowing or complete absence of the opening between the RIGHT VENTRICLE and the PULMONARY ARTERY. Lacking a normal PULMONARY VALVE, unoxygenated blood in the right ventricle can not be effectively pumped into the lung for oxygenation. Clinical features include rapid breathing, CYANOSIS, right ventricle atrophy, and abnormal heart sounds (HEART MURMURS).Gene Dosage: 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.Syndrome: A characteristic symptom complex.Chromosomal Instability: An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.Preimplantation Diagnosis: Determination of the nature of a pathological condition or disease in the OVUM; ZYGOTE; or BLASTOCYST prior to implantation. CYTOGENETIC ANALYSIS is performed to determine the presence or absence of genetic disease.Amniotic Fluid: A clear, yellowish liquid that envelopes the FETUS inside the sac of AMNION. In the first trimester, it is likely a transudate of maternal or fetal plasma. In the second trimester, amniotic fluid derives primarily from fetal lung and kidney. Cells or substances in this fluid can be removed for prenatal diagnostic tests (AMNIOCENTESIS).Chromosomes, Human, Pair 22: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.DNA Copy Number Variations: Stretches of genomic DNA that exist in different multiples between individuals. Many copy number variations have been associated with susceptibility or resistance to disease.Infertility: Inability to reproduce after a specified period of unprotected intercourse. Reproductive sterility is permanent infertility.Polymerase Chain Reaction: 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.Infant, Newborn: An infant during the first month after birth.Chromosome Inversion: 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.Chromosomes, Human, Pair 12: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Fungal: Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.Fetus: The unborn young of a viviparous mammal, in the postembryonic period, after the major structures have been outlined. In humans, the unborn young from the end of the eighth week after CONCEPTION until BIRTH, as distinguished from the earlier EMBRYO, MAMMALIAN.Genome, Human: 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.Candidiasis: Infection with a fungus of the genus CANDIDA. It is usually a superficial infection of the moist areas of the body and is generally caused by CANDIDA ALBICANS. (Dorland, 27th ed)Infertility, Male: The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility.Chromosomes, Human, Pair 11: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Diploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.Chromosomes, Human, Pair 3: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Candida: A genus of yeast-like mitosporic Saccharomycetales fungi characterized by producing yeast cells, mycelia, pseudomycelia, and blastophores. It is commonly part of the normal flora of the skin, mouth, intestinal tract, and vagina, but can cause a variety of infections, including CANDIDIASIS; ONYCHOMYCOSIS; vulvovaginal candidiasis (CANDIDIASIS, VULVOVAGINAL), and thrush (see CANDIDIASIS, ORAL). (From Dorland, 28th ed)Oligospermia: A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen.Gene Amplification: 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.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Nucleic Acid Amplification Techniques: Laboratory techniques that involve the in-vitro synthesis of many copies of DNA or RNA from one original template.Congenital Abnormalities: Malformations of organs or body parts during development in utero.Ploidies: The degree of replication of the chromosome set in the karyotype.Sensitivity and Specificity: 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)Sex Chromosomes: 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)Chromosomes, Human, Pair 17: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.X Chromosome: 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.Electrophoresis, Gel, Pulsed-Field: Gel electrophoresis in which the direction of the electric field is changed periodically. This technique is similar to other electrophoretic methods normally used to separate double-stranded DNA molecules ranging in size up to tens of thousands of base-pairs. However, by alternating the electric field direction one is able to separate DNA molecules up to several million base-pairs in length.Interphase: 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 alphaE-catenin gene (CTNNA1) acts as an invasion-suppressor gene in human colon cancer cells. (1/5826)

The acquisition of invasiveness is a crucial step in the malignant progression of cancer. In cancers of the colon and of other organs the E-cadherin/catenin complex, which is implicated in homotypic cell-cell adhesion as well as in signal transduction, serves as a powerful inhibitor of invasion. We show here that one allele of the alphaE-catenin (CTNNA1) gene is mutated in the human colon cancer cell family HCT-8, which is identical to HCT-15, DLD-1 and HRT-18. Genetic instability, due to mutations in the HMSH6 (also called GTBP) mismatch repair gene, results in the spontaneous occurrence of invasive variants, all carrying either a mutation or exon skipping in the second alphaE-catenin allele. The alphaE-catenin gene is therefore, an invasion-suppressor gene in accordance with the two-hit model of Knudsen for tumour-suppressor genes.  (+info)

Specific chromosomal aberrations and amplification of the AIB1 nuclear receptor coactivator gene in pancreatic carcinomas. (2/5826)

To screen pancreatic carcinomas for chromosomal aberrations we have applied molecular cytogenetic techniques, including fluorescent in situ hybridization, comparative genomic hybridization, and spectral karyotyping to a series of nine established cell lines. Comparative genomic hybridization revealed recurring chromosomal gains on chromosome arms 3q, 5p, 7p, 8q, 12p, and 20q. Chromosome losses were mapped to chromosome arms 8p, 9p, 17p, 18q, 19p, and chromosome 21. The comparison with comparative genomic hybridization data from primary pancreatic tumors indicates that a specific pattern of chromosomal copy number changes is maintained in cell culture. Metaphase chromosomes from six cell lines were analyzed by spectral karyotyping, a technique that allows one to visualize all chromosomes simultaneously in different colors. Spectral karyotyping identified multiple chromosomal rearrangements, the majority of which were unbalanced. No recurring reciprocal translocation was detected. Cytogenetic aberrations were confirmed using fluorescent in situ hybridization with probes for the MDR gene and the tumor suppressor genes p16 and DCC. Copy number increases on chromosome 20q were validated with a probe specific for the nuclear receptor coactivator AIB1 that maps to chromosome 20q12. Amplification of this gene was identified in six of nine pancreatic cancer cell lines and correlated with increased expression.  (+info)

Kodamaea nitidulidarum, Candida restingae and Kodamaea anthophila, three new related yeast species from ephemeral flowers. (3/5826)

Three new yeast species were discovered during studies of yeasts associated with ephemeral flowers in Brazil, Australia and Hawaii. Their physiological and morphological similarity to Kodamaea (Pichia) ohmeri suggested a possible relationship to that species, which was confirmed by rDNA sequencing. Kodamaea nitidulidarum and Candida restingae were found in cactus flowers and associated nitidulid beetles in sand dune ecosystems (restinga) of South-eastern Brazil. Over 350 strains of Kodamaea anthophila were isolated from Hibiscus and morning glory flowers (Ipomoea spp.) in Australia, and from associated nitidulid beetles and Drosophila hibisci. A single isolate came from a beach morning glory in Hawaii. Expansion of the genus Kodamaea to three species modified the existing definition of the genus only slightly. The type and isotype strains are as follows: K. nitidulidarum strains UFMG96-272T (h+; CBS 8491T) and UFMG96-394I (h-; CBS 8492I); Candida restingae UFMG96-276T (CBS 8493T); K. anthophila strains UWO(PS)95-602.1T (h+; CBS 8494T), UWO(PS)91-893.2I (h-; CBS 8495I) and UWO(PS)95-725.1I (h-; CBS 8496I).  (+info)

Partial monosomy and partial trisomy 18 in two offspring of carrier of pericentric inversion of chromosome 18. (4/5826)

A pericentric inversion of chromosome 18 is described in the mother of a patient with clinical diagnosis of 18q--syndrome. The propositus' chromosome complement includes the recombinant 18 with deficiency of the distal one-third of the long arm and duplication of the terminal segment of the short arm. The propositus' sister carrier the recombinant 18 with a duplication of the distal one-third of the long arm and a deficiency of the terminal segment of the short arm. The relative length of the inverted segment represents about 60% of the total chromosome 18 length. The probability of recombinant formation following the occurrence of a chiasma within the inverted segment is predicted to be high.  (+info)

True hermaphroditism associated with microphthalmia. (5/5826)

A 4-year-old boy with an undescending left testis, penoscrotal hypospadia and bilateral microphthalmia was admitted to our hospital. Chromosome analysis revealed a karyotype of 46, XX del(x)(p2 2,31) and the sex-determining region of the Y chromosome (SRY) was negative. The right testis was located in the scrotum and a left cystic ovary-like gonad, a salpinx and a unicorn uterus were found in the left inguinal canal. Histologically the gonad was an ovotestis in which primordial follicles covered infantile seminiferous tubules. Microphthalmia is observed in some congenital syndromes caused by interstitial deletion of the X chromosome. This case suggested that the short arm of the X chromosome was involved in the differentiation of the gonad. Very closely located follicles and infantile seminiferous tubules indicated that induction of meiosis in the fetus was controlled by the local microenvironment in follicles and seminiferous tubules, and not by the systemic hormonal condition.  (+info)

Transposition of the autonomous Fot1 element in the filamentous fungus Fusarium oxysporum. (6/5826)

Autonomous mobility of different copies of the Fot1 element was determined for several strains of the fungal plant pathogen Fusarium oxysporum to develop a transposon tagging system. Two Fot1 copies inserted into the third intron of the nitrate reductase structural gene (niaD) were separately introduced into two genetic backgrounds devoid of endogenous Fot1 elements. Mobility of these copies was observed through a phenotypic assay for excision based on the restoration of nitrate reductase activity. Inactivation of the Fot1 transposase open reading frame (frameshift, deletion, or disruption) prevented excision in strains free of Fot1 elements. Molecular analysis of the Nia+ revertant strains showed that the Fot1 element reintegrated frequently into new genomic sites after excision and that it can transpose from the introduced niaD gene into a different chromosome. Sequence analysis of several Fot1 excision sites revealed the so-called footprint left by this transposable element. Three reinserted Fot1 elements were cloned and the DNA sequences flanking the transposon were determined using inverse polymerase chain reaction. In all cases, the transposon was inserted into a TA dinucleotide and created the characteristic TA target site duplication. The availability of autonomous Fot1 copies will now permit the development of an efficient two-component transposon tagging system comprising a trans-activator element supplying transposase and a cis-responsive marked element.  (+info)

Ataxia, ocular telangiectasia, chromosome instability, and Langerhans cell histiocytosis in a patient with an unknown breakage syndrome. (7/5826)

An 8 year old boy who had Langerhans cell histiocytosis when he was 15 months old showed psychomotor regression from the age of 2 years. Microcephaly, severe growth deficiency, and ocular telangiectasia were also evident. Magnetic nuclear resonance imaging showed cerebellar atrophy. Alphafetoprotein was increased. Chromosome instability after x irradiation and rearrangements involving chromosome 7 were found. Molecular study failed to show mutations involving the ataxia-telangiectasia gene. This patient has a clinical picture which is difficult to relate to a known breakage syndrome. Also, the relationship between the clinical phenotype and histiocytosis is unclear.  (+info)

Karyotyping of human oocytes by chromosomal analysis of the second polar bodies. (8/5826)

This paper describes a method for obtaining metaphase chromosomes from human second polar bodies. The second polar body nucleus was injected into the cytoplasm of an enucleated oocyte, which is activated shortly after injection. When the polar body nucleus is transformed into a haploid pronucleus, treatment with okadaic acid was used to induce premature chromosome condensation. A total of 25 analysable chromosome plates were obtained from 38 polar bodies karyotyped using this technique. Whole chromosome painting was used to detect second polar bodies (and respectively, oocytes) with unbalanced translocations. In combination with the first polar body analysis, this technique may be useful in preimplantation genetic diagnosis for patients carrying maternal translocations.  (+info)

Chromosomal abnormalities have been identified as the main cause of developmental delay, mental retardation, autistic spectrum disorders as well as multiple congenital abnormalities. Until recently, the only available method of detecting chromosomal abnormalities was conventional G-banding karyotype, which screens all chromosomes for aneuploidy and segmental lesions up to the limit of 5-10 Mb.. Chromosomal microarray analysis with molecular karyotype (aCGH) is a new method that enables the detection of chromosomal abnormalities that are accompanied by a change in the copy number of genetic loci (aneuploidy, deletions, duplications) across the entire genome of a patient, with an effective resolution of up to 50Kb.. Numerous studies have shown the benefits of applying molecular karyotype to patients with developmental delay and multiple congenital abnormalities of unknown etiology, leading to the establishment of molecular karyotype as the first tier test for these patients. In particular, it has ...
Synonyms for chromosome centric fusion in Free Thesaurus. Antonyms for chromosome centric fusion. 1 synonym for centric: centrical. What are synonyms for chromosome centric fusion?
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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 - ...
Terre, C. ; Luquet, I. ; Laie, J. L. ; Barin, C. ; Baranger, L. ; et. al. Report of 38 patients with hyperdiploid karyotype in acute myeloid leukemia: A groupe francais de cytogenetique hematologique study.12th Congress of the European-Hematology-Association (Vienna (Austria), Jun 07-10, 2007). In: Haematologica : the hematology journal, Vol. 92, p. 174-174 (2007 ...
TY - CHAP. T1 - Centromeric index versus DNA content flow karyotypes of human chromosomes measured by means of slit-scan flow cytometry. AU - Lucas, J. N.. AU - Gray, Joe. PY - 1987. Y1 - 1987. UR - http://www.scopus.com/inward/record.url?scp=0023254655&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=0023254655&partnerID=8YFLogxK. M3 - Chapter. C2 - 3595351. AN - SCOPUS:0023254655. VL - 8. SP - 273. EP - 279. BT - Cytometry. ER - ...
Karyotyping analysis of hMSCs. (A) Morphology of cells in primary culture (left) and in late (13th) passage (right). The size of hMSCs in culture was enlarged w
Mosaic structural chromosomal abnormalities observed along the trophoblast-mesenchyme-fetal axis, although rare, pose a difficult problem for their prognostic interpretation in prenatal diagnosis. Additional issues are raised by the presence of mosaic imbalances of the same chromosome showing different sizes in the different tissues, that is, deletions and duplications in the cytotrophoblast and mesenchyme of chorionic villi (CV). Some of these cytogenetic rearrangements originate from the post-zygotic breakage of a dicentric chromosome or of the product of its first anaphasic breakage. Selection of the most viable cell line may result in confined placental mosaicism of the most severe imbalance, favoring the presence of the cell lines with the mildest duplications or deletions in the fetal tissues. We document three cases of ambiguous results in CV analysis due to the presence of different cell lines involving structural rearrangements of the same chromosome which were represented differently ...
We live in a digital era in which speed and knowledge turnover are very high. In this scenario, patients and physicians desire faster but precise diagnostic tests at a low cost.. Chronic myeloid leukemia (CML) is characterized by the presence of t(9;22)(q34.1;q11.2), the Philadelphia (Ph) chromosome, or the breakpoint cluster region-Abelson murine leukemia 1 (BCR-ABL1) rearrangement.1 The diagnosis can be made using findings from peripheral blood (PB) exams combined with the detection of the Ph chromosome by karyotyping using a bone marrow (BM) sample or testing for the BCR-ABL1 by real time quantitative polymerase chain reaction (RqPCR) in PB or BM samples.. Comparing karyotyping with RqPCR, the former is a time consuming process that takes around 15 days while one gets the results of RqPCR in seven days. Furthermore, karyotyping is more expensive and performed after marrow aspiration whereas RqPCR may be carried out using PB. Therefore, some patients and doctors opt for the faster and cheaper ...
Colour enhanced micrograph of a normal human, female karyotype. A cell contains 46 chromosomes grouped into 23 pairs. The 23rd pair are the sex chromosomes. Females have two of the same kind of sex chromosome (XX), while males have two distinct sex chromosomes (XY). The complete set of all (usually 23) chromosomal pairs, arranged and displayed by size, is known as an individuals karyotype. - Stock Image C022/0526
This Chromosome Karyotyping Lesson Plan is suitable for 9th - 12th Grade. Young scholars explore chromosome karyotyping. In this chromosome karyotyping lesson plan, students use a chromosome kit to explore chromosome syndromes and disorders.
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Authors: HAMID REZA ESMAEILI, ZEINAB PIRAVAR, A.H. SHIVA Abstract: The karyotypes of 2 endemic tooth-carps of Iran, Aphanius persicus (Jenkis, 1910) and Aphanius sophiae (Heckel, 1849), were investigated by examining metaphase chromosomes spreads obtained from gill epithelial and kidney cells. The diploid chromosome numbers of both species were 2n = 48. The karyotypes consisted of 11 pairs of submetacentric and 13 pairs of subtelocentric chromosomes in A. persicus and 14 submetacentric and 10 subtelocentric chromosomes in A. sophiae. The arm numbers in A. persicus and A. sophiae were NF = 70 and NF = 76, respectively. Sex chromosomes were cytologically indistinguishable in both tooth-carps. Keywords: Aphanius persicus, Aphanius sophiae, karyotype, chromosome, idiogram Full Text: PDF ...
Background Approximately 50% of spontaneous miscarriages are associated with chromosome abnormalities. Identification of these karyotypic abnormalities helps to estimate recurrence risks in future pregnancies. Chromosomal microarray analysis (CMA) is transforming clinical cytogenetic practice with its ability to examine the human genome at increasingly high resolution. Objectives The aim of this study was to determine whether…
Chromosome studies. Chromosomes are the threadlike structures of DNA in every cell in our bodies that contain our genes. Cytogenetics is a word used to describe the study of chromosomes. The chromosomes need to be stained in order to see them with a microscope. When stained, the chromosomes look like strings with light and dark bands. A picture (an actual photograph from one cell) of all 46 chromosomes, in their pairs, is called a karyotype. A normal female karyotype is written 46, XX, and a normal male karyotype is written 46, XY. The standard analysis of the chromosomal material evaluates both the number and structure of the chromosomes, with an accuracy of over 99.9 percent. Chromosome analyses are usually performed using a blood sample, prenatal specimen, skin biopsy, or other tissue sample. Chromosomes are analyzed by specially trained healthcare personnel that have advanced degrees in cytogenetic technology and genetics. Chromosome studies may be performed when a child is born with ...
Karyotyping test...so worried!: Hello dear, I had an abortion last month on 18th feb at 11 weeks of pregnancy.it was my 2nd loss..this time dr.suggested me to take karyotype test to find the reason for miscarriages and she sent the conception for karyotyping.i am still waiting for the results I dont know what will come out.and what is chromosomal imbalance.i am very sad... - BabyCenter India
Karyotyping is a boon in medical science. It helps in determining any defects and disorders and thus prevents chances of miscarriage. Karyotyping is the study of chromosomes so genetic disorders can be determined through this technique.
A different kind of TWW---for my karyotyping blood work results to come in---is done. A few weeks ago I had a recurrent miscarriage panel drawn at my REs office. It was done more as a formality, IMO. Something Dr. C figured would appease me. There was some confusion when a new girl in my REs office…
The study of chromosome banding pattern of leukaemic cells in 15 patients with CML revealed t(9;22) in all cases. Similar additional chromosome abnormalities were observed in the terminal stage of the disease in 5 of 9 patients with aneuploid cell li
An organized visual profile of the chromosomes in the nucleus of a body cell of an organism. Karyotypes are prepared using cells in the metaphase stage of cell division, when chromosomal strands have coiled together and duplicated, rendering them easily visible under a microscope after staining. Photomicrographs of the stained chromosomes are thenarranged in a standard format according to size, the relative position ofthe centromere, and other criteria. The normal human karyotype consists of 46 chromosomes.. « Back to Glossary Index ...
METASEL :: DESCRIPTION Using the Gaussian-based rules, METASEL can be used to quickly rank hundreds of chromosome spread images so as to assist cytogeneticists to perform karyotyping effectively. Furthermore, MetaSel
Subjects and cell preparation. Sixty-one new patients with adult de novo AML, who were diagnosed according to the French-American-British criteria, were the subjects of this study. Their respective French-American-British subtypes were 18 M1, 16 M2, 8 M3, 9 M4, 8 M5, and 2 M6. Cytogenetic data obtained by the standard Giemsa banding method were classified into three prognostic categories, which were defined previously based on other reports (24-26). That is, "favorable" is the presence of inv(16), t(15;17), or t(8;21), both with and without any other abnormality; "unfavorable" is −5, −7, 5q−, 7q−, t(9;22), abnormalities of chromosomes 3q and/or 11q, and a complex karyotype (,3 chromosomal abnormalities); and "intermediate" is all other karyotypes. In the present cohort, there were no patients with t(9;22). The prognosis did not differ between patients with and without additional abnormalities in the favorable cytogenetics group. All patients were treated at the Main Hospital of Nippon ...
The 4H(4D) wheat/barley substitution line was crossed with the Chinese Spring ph1b mutant genotype in order to induce wheat-barley homoeologous recombinations. F3 and F4seeds of the 4H(4D) ×...
Peripheral Blood Karyotyping Medium without PHA optimized for short-term cultivation of peripheral blood lymphocytes for chromosome analysis
This is a pseudodiploid human cell line with the modal chromosome number of 46, occurring in 86% of cells. The rate of polyploidy was high at 17.1%. The karyotype of the line was 46,XY,-2,+dir dup(2)(p13-p23). The Y chromosome was slightly longer than N22 and had a large segment of heterochromatic, fluorescent distal q arms ...
FISH (fluorescence in-situ hybridisation) light micrograph of the human male karyotype (XY), the complete set of chromosomes. Humans have 46 chromosomes in total: 23 inherited from the mother and 23 from the father. The sex chromosomes, which determine gender, are at bottom right, showing one X and one Y chromosome. - Stock Image C003/0957
We have shown that constitutive c-Myc overexpression reproducibly immortalizes HFFs isolated from several independent donors. In rodent cells and other strains of human fibroblasts, acute activation of the MycER chimera caused the appearance of karyotypic abnormalities, including gross chromosomal rearrangements (32, 33). c-Myc-immortalized HFFs exhibited a normal karyotype (Fig. 3C), although they did show signs of increased DNA damage as seen by staining with anti-γ-H2AX foci (data not shown), indicating that these cells can efficiently repair genomic damage. Because stable chromosomal rearrangements were not selected for during immortalization (Fig. 3C), we hypothesize that cells with karyotypic abnormalities are likely not favored for survival. c-Myc-immortalized human prostate epithelial cells (24), similar to our findings, had no karyotypic abnormalities; however, they had lost the ability to respond to p16-mediated arrest. This finding is different from our observation (Fig. 5), and the ...
Peripheral Blood Karyotyping Media optimized for the short term culture of peripheral blood lymphocytes. Ready to use, fully supplemented
Karyotyping by Satish Verma. .A dark secret of double standard releases the hidden forces. You must bend backward to walk. This was the rape of surrender. The art of dodging the . Page
The sample is placed into a special dish or tube and allowed to grow in the laboratory. Cells are later taken from the new sample and stained. The laboratory specialist uses a microscope to examine the size, shape, and number of chromosomes in the cell sample. The stained sample is photographed to show the arrangement of the chromosomes. This is called a karyotype. Certain problems can be identified through the number or arrangement of the chromosomes. Chromosomes contain thousands of genes that are stored in DNA, the basic genetic material. ...
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Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Womens and Childrens Health. (Obstetrisk forskning/Axelsson) ...
Based on the results of this study, an alternative to HCT should be considered for patients with CK and mutations in TP53 or the RAS pathway.
This exercise is a simulation of human karyotyping using digital images of chromosomes from actual human genetic studies. You will be arranging chromosomes into a completed karyotype, and interpreting your findings just as if you were working in a genetic analysis program at a hospital or clinic.
Vitturi, R. and F. Lafargue, 1992. Karyotype analyses reveal inter-individual polymorphism and association of nucleolus-organizer-carrying chromosomes in Capros aper (Pisces: Zeiformes). Mar. Biol. 112:37-41 ...
Humans typically have 22 pairs of autosomal chromosomes in their cells, and a pair of sex chromosomes. About 2.7 million individuals have an extra, 47th autosomal chromosome called a small supernumerary marker chromosome (sSMC). These small supernumerary marker chromosomes can originate from any of the 24 different human chromosomes. About 70% of the cases with sSMC are de novo (new mutations), 30% are inherited within a family. About 30% of the carriers of a sSMC are clinically abnormal. The main problem in connection with a sSMC appears when the diagnosis of the presence of a sSMC is made prenatally. Until recently there was no possibility to make clear predictions about the outcome of the pregnancy. However, research is being carried out into the link between the presence of a sSMC in individuals and any consequent symptoms. Liehr et al. Small supernumerary marker chromosomes (sSMC) in humans. Cytogenet Genome Research, 2004; 107: 55-67 Liehr et al. Small supernumerary marker ...
Chromosomal abnormalities are diagnostic and prognostic key factors in acute myeloid leukemia (AML) patients, as they play a central role for risk stratification algorithms. High hyperdiploidy (HH), a rare cytogenetic abnormality seen commonly in elder male AML patients, is normally categorized under AML with complex karyotype (CK). Accordingly, patients with HH generally are associated with low remission rates and a short overall survival. Here we report a case of 21-year-old female, diagnosed with a de novo AML-M1 according to WHO classification and a CK at diagnosis. Cytogenetic, molecular cytogenetic approaches (standard fluorescence in situ hybridization (FISH), array-proven multicolor banding (aMCB)) and high resolution array comparative genomic hybridization (aCGH) analyses revealed a unique complex but still near diploid karyotype involving eleven chromosomes was identified. It included pentasomy 4, three yet unreported chromosomal aberrations t(1;2)(p35;p22), t(1;3)(p36.2;p26.2), and t(10;12)
The report that has inspired this communication addresses basic side of chromosome mosaicism research. However, Molecular Cytogenetics has published a series of original researches, which have paid attention to practical side of chromosomal mosaicism [31-36]. These have demonstrated that chromosomal mosaicism is an appreciable phenomenon frequently encountered in small supernumerary marker chromosomes (sSMC) research [31-33, 35]. Furthermore, it provided evidences that mosaic structural chromosome rearrangements are likely to occur more frequently, than previously recognized [4, 5, 34, 36]. In the light of studying sSMC, it should be additionally mentioned that chromosomal mosaicism could be cryptic [37, 38] and dynamic [39]. The former is referred to as occurrence of more complex mosaics than revealed after karyotyping [37]. The latter is the occurrence of new genetic imbalances from an already abnormal cell or mosaicism resulting from behavioral peculiarities of a rearranged chromosome [39]. ...
Various approaches are used to study the chromosomal makeup of cells. Traditional cytogenetic methods are based on the analysis of mitotic cells fixed onto slides to analyze their chromosomal composition (karyotype) by microscopy. This approach can be combined with FISH to detect specific sequences on morphologically distinct individual chromosomes. Disadvantages of this type of microscopic analysis are the amount of time and labor required to acquire and analyze typically less than a hundred cells. As a result, the statistical power of this type of analysis is limited. An alternative to traditional cytogenetic methods is flow karyotyping (1,2) a method to analyze chromosomes in suspension by flow cytometry. For bivariate flow karyotyping, the DNA composition of specific chromosomes in suspension is measured based on the DNA-specific dyes Hoechst 33258 and chromomycin A3 (3,4). In our protocol, we combine flow karyotyping and FISH to analyze repetitive DNA in individual chromosomes by flow ...
Define chromosomal analysis. chromosomal analysis synonyms, chromosomal analysis pronunciation, chromosomal analysis translation, English dictionary definition of chromosomal analysis. n. 1. A linear strand of DNA and associated proteins in the nucleus of eukaryotic cells that carries the genes and functions in the transmission of...
Myelodysplastic syndrome (MDS) patients with a normal karyotype constitute a heterogeneous group from a biological standpoint and their outcome is often unpredictable. Interphase fluorescence in situ hybridization (I-FISH) studies could increase the rate of detection of abnormalities, but previous reports in the literature have been contradictory. We performed I-FISH and conventional karyotyping (G-banding) on 50 MDS patients at diagnosis, after 6 and 12 months or at any time if a transformation to acute myeloid leukemia (AML) was detected. Applying a probe-panel targeting the centromere of chromosomes 7 and 8, 5q31, 5p15.2 and 7q31, we observed one case with 5q deletion not identified by G-banding. I-FISH at 6 and 12 months confirmed the karyotype results. Eight cases transformed to AML during follow-up, but no hidden clone was detected by I-FISH in any of them. The inclusion of I-FISH during follow-up of MDS resulted in a small improvement in abnormality detection when compared with ...
Karyotype data are the most common form of genetic data that is regularly used clinically. They are collected as part of the standard of care in many diseases, particularly in pediatric and cancer medicine contexts. Karyotypes are represented in a unique text-based format, with a syntax defined by the International System for human Cytogenetic Nomenclature (ISCN). While human-readable, ISCN is not intrinsically machine-readable. This limitation has prevented the full use of complex karyotype data in discovery science use cases. To enhance the utility and value of karyotype data, we developed a tool named CytoGPS. CytoGPS first parses ISCN karyotypes into a machine-readable format. It then converts the ISCN karyotype into a binary Loss-Gain-Fusion (LGF) model, which represents all cytogenetic abnormalities as combinations of loss, gain, or fusion events, in a format that is analyzable using modern computational methods. Such data is then made available for comprehensive downstream analyses that ...
Karyotyping Pedigree Charts Pedigree Charts Pedigree Charts In this section, we will discuss how scientists trace and identify genetic traits that can cause disease. One way of studying genes in humans is to use a tool called a PEDIGREE CHART. It helps people to understand how traits are inherited. In a pedigree chart the family linage and a specific trait is illustrated. In pedigree charts: Female = Male = Since pedigree charts trace traits through family lineages family relationships are described like this: Marriage: Offspring: In this pedigree chart, how many children are there? Four How many are BOYS? ONE How many are girls? THREE Pedigree Charts A person who has the dominant trait: or A person who has the recessive trait: or Lets look at one family and describe who can taste PTC and who cannot: t t T T T T T How many parents were NOT PTC tasters? How many offspring were NOT PTC tasters? Karyotyping Karyotyping is when geneticists look at chromosomes to get clues if there is genetic ...
In countries where comparative genomic hybridization arrays (aCGH) and next generation sequencing are not widely available due to accessibility and economic constraints, conventional 400-500-band karyotyping is the first-line choice for the etiological diagnosis of patients with congenital malformations and intellectual disability. Conventional karyotype analysis can rule out chromosomal alterations greater than 10 Mb. However, some large structural abnormalities, such as derivative chromosomes, may go undetected when the analysis is performed at less than a 550-band resolution and the size and banding pattern of the interchanged segments are similar. Derivatives frequently originate from inter-chromosomal exchanges and sometimes are inherited from a parent who carries a reciprocal translocation. We present two cases with derivative chromosomes involving a 9.1 Mb 5p deletion/14.8 Mb 10p duplication in the first patient and a 19.9 Mb 5p deletion/ 18.5 Mb 9p duplication in the second patient. These long
The development of a universal soybean (Glycine max [L.] Merr.) cytogenetic map that associates classical genetic linkage groups, molecular linkage groups, and a sequence-based physical map with the karyotype has been impeded due to the soybean chromosomes themselves, which are small and morphologically homogeneous. To overcome this obstacle, we screened soybean repetitive DNA to develop a cocktail of fluorescent in situ hybridization (FISH) probes that could differentially label mitotic chromosomes in root tip preparations. We used genetically anchored BAC clones both to identify individual chromosomes in metaphase spreads and to complete a FISH-based karyotyping cocktail that permitted simultaneous identification of all 20 chromosome pairs. We applied these karyotyping tools to wild soybean, G. soja Sieb. and Zucc., which represents a large gene pool of potentially agronomically valuable traits. These studies led to the identification and characterization of a reciprocal chromosome ...
The deletion of 5q is a frequent chromosomal abnormality in patients with MDS. When detected in association with complex karyotype, the 5q- aberration is associated with adverse prognostic outcome. Although not contained within any common deleted region on 5q, NPM1 can be deleted in 5q- cases with large chromosomal deletions. To investigate haploinsufficiency of NPM1 in myeloid malignancies with 5q- aberration, we analyzed the NPM1 gene in terms of mutational and methylation status and presence of deletions in 53 patients with MDS or secondary AML (sAML) carrying the 5q- abnormality as a sole chromosomal alteration or associated with additional chromosome defects. NPM1 deletion, hypermethylation, or mutations were not found in any of the 23 patients with isolated 5q- while loss of one copy of NPM1 was found in 7/30 patients with 5q- associated with complex karyotype. ...
Bovine karyotyping has become an important diagnostic tool in animal breeding. In the prenatal period it can diagnose several chromosomal abnormalities such as Robertsonian translocations, testicle feminization syndrome, gonadal dysgenesis and Klinefelters syndrome. An important cell source for karyotype analysis is the amniotic fluid. It has been extensively used in humans but in bovine, however, this is not the case despite its diagnostic value. Since a small percentage of cells is viable, cells and their growth conditions as well as the handling of the material should be optimal to insure a successful analysis. For this, we have compared the growth efficiency for bovine amniocytes in two media, employing cells from 10 to 14 weeks of gestation. Amniocytes were cultured in the Amniomax (Gibco-BRL/ Life Technologies, Rockville, MD USA) medium during eleven days and in the RPMI 1640 (Gibco-BRL) medium during sixteen days at 37ºC and 5% CO2, then fixed and GTG banded. All the cultures with RPMI ...
A karyotype a complete set of chromosomes of a particular species. The number and appearance of chromosomes can very dramatically between different organisms. Human beings have 46 chromosomes, 22 pairs of autosomal chromosomes and one pair of sex chromosomes. The latter is what determines whether a developing embryo develops as a physiological male or female, with a male karyotype displaying the diminutive Y chromosome beside its larger X chromosome partner (women have two X chromosomes in their karyotype).. A karyotype is generally an image of a completed and arranged set of chromosomes as viewed through a light microscope. A chromosome set can be attained from nearly any type of tissue.[1] Dividing cells are stained with a special dye, usually the Giemsa stain, and then cell division is halted during metaphase. An image of the dividing cells is taken when the chromosomes are all visible, and the individual chromosomes are cut out of the picture and rearranged on a separate medium based on ...
Spectral karyotype[edit]. Spectral karyotyping is an image of colored chromosomes. Spectral karyotyping involves FISH using ... Virtual karyotype[edit]. Virtual karyotyping is another cost-effective, clinically available alternative to FISH panels using ... FISH on sperm cells is indicated for men with an abnormal somatic or meiotic karyotype as well as those with oligozoospermia, ... This type of karyotyping is used specifically when seeking out chromosome arrangements. ...
Karyotype Notes Source Jack jumper ant (Myrmecia pilosula) 2/1. 2 for females, males are haploid and thus have 1; smallest ... Normal dog karyotype is composed of 38 pairs of acrocentric autosomes and two metacentric sex chromosomes.[96][97] [98] ... This number, along with the visual appearance of the chromosome, is known as the karyotype,[2][3][4] and can be found by ... Karyotype of a human being, showing 22 pair of autosomal chromosomes and both the XX female and the XY male possibilities for ...
The first published report of a man with a 47,XXY karyotype was by Patricia Jacobs and John Strong at Western General Hospital ... Birth of a cell with karyotype XXY due to a nondisjunction event of one X chromosome from a Y chromosome during meiosis I in ... Birth of a cell with karyotype XXY due to a nondisjunction event of one X chromosome during meiosis II in the female ... This XXY chromosome arrangement is one of the most common genetic variations from the XY karyotype, occurring in about one in ...
Diagnosis of 48,XXXY is usually done by a standard karyotype.[3] A karyotype is a chromosomal analysis in which a full set of ... Karyotype of 47,XXY. The only difference for 48,XXXY would be a third X chromosome. ... The presence of the additional 2 X chromosomes on the karyotype are indicative of XXXY syndrome. ...
"Karyotyping". National Institute of Health. Retrieved 7 May 2014. Montag, M; van der Ven, K; Rösing, B; van der Ven, H; Rösing ... Karyotyping involves performing an amniocentesis in order to study the cells of an unborn fetus during metophase 1. Light ... karyotype 45, X0) are spontaneously aborted. The term autosomal trisomy means that a chromosome other than the sex chromosomes ... About eighty percent of individuals with this syndrome have one extra X chromosome resulting in the karyotype XXY. The ...
Karyotype to check for chromosomal abnormalities.. [3][2] Medical imaging[edit]. *Performing wrist x-ray to determine bone age. ...
"Increased nuchal translucency with normal karyotype". doi:10.1016/j.ajog.2004.12.093. Retrieved 2016-07-21. Souka AP, Von ... Increased NT and normal karyotype". Centrus. Retrieved 2009-06-19. "Additional ultrasonographic markers in the first trimester ... Kaisenberg CS, Hyett JA, Sonek JD, Nicolaides KH (2005-04-06). "Increased nuchal translucency with normal karyotype". doi: ...
Digital karyotyping [5]. Proc Natl Acad Sci U S A. 2002 Dec 10;99(25):16156-61. Epub 2002 Dec 2. PMID 12461184 Ding L, Wendl MC ... These included digital karyotyping, which allows for quantitative characterization of amplifications and deletions at the DNA ...
New karyotypes of shrews (Mammalia: Soricidae) from Cameroon and Somalia. Annals of Carnegie Museum 68: 1-13. ...
Vladimir E. Gokhman (2009). Karyotypes of Parasitic Hymenoptera. Springer. p. 60. ISBN 978-1-4020-9806-2. .. ...
Text is available under the Creative Commons Attribution/Share-Alike License and the GFDL; additional terms may apply. See Terms of Use for details ...
2007). "Digital karyotyping reveals frequent inactivation of the Dystrophin/DMD gene in malignant melanoma". Cell Cycle. 6 (2 ... Hu M.; Yao J.; Polyak K. (2006). "Methylation-specific digital karyotyping". Nature Protocols. 1 (3): 1621-1636. doi:10.1038/ ... Digital Karyotyping: Detects copy number variation using genomics tags obtained via restriction enzyme digests. These tags are ...
The cause can be seen as an incomplete Y chromosome: the usual karyotype in these cases is 45X, plus a fragment of Y. This ... even though that person possesses an XY karyotype. The lack of the second X results in infertility. In other words, viewed from ... and the vast majority do not know their karyotype.[55] ...
Genetic variation among humans occurs on many scales, from gross alterations in the human karyotype to single nucleotide ...
See karyotype).[citation needed] Édouard van Beneden Recherches sur la composition et la signification de l'œuf 1868 Full text ...
1980) worked on karyotypes with the lesser kudu and found them to share with the nilgai an X chromosome fused with autosome 14. ... Benirschke, K.; Rüedi, D.; Müller, H.; Kumamoto, A.T.; Wagner, K.L.; Downes, H.S. (1980). "The unusual karyotype of the lesser ...
1968). "Uniformity of karyotypes in the Camelidae". Cytogenetic and Genome Research. 7 (1): 8-15. doi:10.1159/000129967. PMID ... The dromedary's karyotype is similar to that of the Bactrian camel.[18] ...
15 April 2007). "Karyotype is an independent prognostic factor in adult acute lymphoblastic leukemia (ALL): analysis of ...
Expertises: Karyotype analysis; Cytogenetic biodosimetry; In vitro testing of genotoxic and cytotoxic potential of chemical ... Expert activity of the Laboratory for Cytogenetics and Genotoxicology mainly includes chromosome analysis and karyotyping of ...
Cytogenetics of the herring (Clupea harengus L.). 2. Karyotypes of White Sea herring groups. Cytobios 75(302-303):149-156. ...
Nguyen HN, Reijo Pera RA (2008). "Metaphase spreads and spectral karyotyping of human embryonic stem cells". CSH Protoc: pdb. ...
June 2008). "The amphioxus genome and the evolution of the chordate karyotype". Nature. 453 (7198): 1064-71. Bibcode:2008Natur. ... October 2004). "Genome duplication in the teleost fish Tetraodon nigroviridis reveals the early vertebrate proto-karyotype". ...
183 cm] tall man of average intelligence who was karyotyped because he had a daughter with Down syndrome. Only a dozen isolated ... The first published report of a man with a 47,XYY karyotype was by internist and cytogeneticist Avery Sandberg and colleagues ... There are 47 chromosomes, instead of the usual 46, giving a 47,XYY karyotype. Treatment may include speech therapy or extra ... 5'11", range: 5'7" to 6'2"), had a 47,XYY karyotype, and mischaracterized them as aggressive and violent criminals. Over the ...
Heng HH; Heng, Henry H.Q. (2007). "Elimination of altered karyotypes by sexual reproduction preserves species identity". Genome ...
"The amphioxus genome and the evolution of the chordate karyotype". Nature. 453 (7198): 1064-1071. Bibcode:2008Natur.453.1064P. ...
Comparative chromosome painting of pronghorn (Antilocapra americana) and saola (Pseudoryx nghetinhensis) karyotypes with human ...
Chromosome analysis: Also called karyotype analysis, this is a blood test that looks at your chromosomes. ...
Other karyotypes are seen along with mosaicism. It is believed that although it is very prevalent, only about 25-33% of people ... It is associated with at least one extra X chromosome with the most common karyotype (~80% of patients) being 47 XXY. ... KS is diagnosed by karyotype. The phenotype varies but most commonly is associated with hypogonadotropic hypogonadism, ...
A total of 129 couples (5.4%) had an abnormal karyotype in one partner excluding inversion 9 in 44 men and in 85 women. Thus, ... A total of 129 couples (5.4%) had an abnormal karyotype in one partner excluding inversion 9 in 44 men and in 85 women. Thus, ... A total of 129 couples (5.4%) had an abnormal karyotype in one partner excluding inversion 9 in 44 men and in 85 women. Thus, ... A total of 129 couples (5.4%) had an abnormal karyotype in one partner excluding inversion 9 in 44 men and in 85 women. Thus, ...
It has been determined that approximately 50% of cases have a 45,X karyotype with the remainder having mosaic karyotypes. In ... Mosaic Karyotype in Turner Syndrome. *We are also conducting studies of brain development and cognitive functioning in girls ... with mosaic karyotype of Turner syndrome (45X/46XX and 45X/47XXX).. *We are examining the if mosaic karyotype modifies the ...
Principles of Digital Karyotyping.. The basic concepts of digital karyotyping have been implemented as described in Fig. 1. ... Digital Karyotyping Library Construction.. Digital karyotyping was performed on DNA from colorectal cancer cell lines DiFi and ... Digital karyotyping. Tian-Li Wang, Christine Maierhofer, Michael R. Speicher, Christoph Lengauer, Bert Vogelstein, Kenneth W. ... Digital karyotyping. Tian-Li Wang, Christine Maierhofer, Michael R. Speicher, Christoph Lengauer, Bert Vogelstein, Kenneth W. ...
Karyotyping is a test to examine chromosomes in a sample of cells. This test can help identify genetic problems as the cause of ... Karyotyping is a test to examine chromosomes in a sample of cells. This test can help identify genetic problems as the cause of ... Karyotype tests should be repeated to confirm that an abnormal chromosome problem is actually in the body of the person. ... Your provider may order other tests that go together with a karyotype:. *Microarray: Looks at small changes in the chromosomes ...
Treatments and Tools for karyotyping. Find karyotyping information, treatments for karyotyping and karyotyping symptoms. ... karyotyping - MedHelps karyotyping Center for Information, Symptoms, Resources, ... My RE told me to take a karyotyping tests..anybody experience this?how much and how is the ... ...
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Male karyotype and female metaphase complement of Uraeotyphlus menoni - CompCytogen-007-011-g004.jpeg 1,350 × 1,021; 107 KB. ... Male karyotype and female metaphase complement of Uraeotyphlus narayani - CompCytogen-007-011-g003.jpeg 1,339 × 1,034; 131 KB. ... Male karyotype and female metaphase complement of Uraeotyphlus oxyurus - CompCytogen-007-011-g001.jpeg 1,322 × 1,024; 126 KB. ... Media in category "Karyotypes". The following 102 files are in this category, out of 102 total. ...
Search for karyotype at other dictionaries: OneLook, Oxford, American Heritage, Merriam-Webster, Wikipedia. Help Advanced ... Definitions of karyotype: *noun: the appearance of the chromosomal makeup of a somatic cell in an individual or species ( ...
A process known as rescue karyotyping is allowing doctors to look back into the genetic history of a miscarriage. In todays ... A process known as rescue karyotyping is allowing doctors to look back into the genetic history of a miscarriage. In todays ...
Karyotype definition, the chromosomes of a cell, usually displayed as a systematized arrangement of chromosome pairs in ... karyotype in Culture Expand. karyotype [(kar-ee-uh-teyep)]. The complete set of chromosomes that constitutes the entire genome ... The normal human karyotype consists of 46 chromosomes.. Verb To prepare the karyotype of an organism.. ... karyotype kar·y·o·type (kārē-ə-tīp). n. *. The characterization of the chromosomal complement of an individual or a species, ...
A karyotype test looks at the size, shape, and number of your chromosomes. Chromosomes are parts of cells that contain genes. ... What is a karyotype test?. A karyotype test looks at the size, shape, and number of your chromosomes. Chromosomes are the parts ... Why do I need a karyotype test?. If you are pregnant, you may want to get a karyotype test for your unborn baby if you have ... What happens during a karyotype test?. For a karyotype test, your provider will need to take a sample of your cells. The most ...
... Gerry Chu gchu at pharmdec.wustl.edu Fri Jun 24 05:19:19 EST 1994 *Previous message: Proteins - Higher Functions ...
... Human Genome. CHROMOSOME. GENE. LOCATION. COMMENT. 1 (11700). Rh blood type. Rh+, Rh ... Karyotypes and Inheritance of Chromosomes. Human Genome. CHROMOSOME. GENE. LOCATION. COMMENT. 13 **. (see 14, 16, 18). Tallness ... KARYOTYPES AND INHERITANCE OF CHROMOSOMES. CASE STUDY. Dr. John Q. Frothingham III was a very respected, wealthy man from a ... KARYOTYPES AND INHERITANCE OF CHROMOSOMES. Sharon Zupo 1992 Woodrow Wilson Biology Institute Rationale: Too often when teaching ...
Many diseases can be detected by karyotyping. Lets Try Karyotyping. To read a set of human chromosomes, scientists first use ... Karyotyping Karyotyping is when geneticists look at chromosomes to get clues if there is genetic abnormality. ... Karyotyping Pedigree Charts Pedigree Charts Pedigree Charts In this section, we will discuss how scientists trace and identify ... Transcript of Pedigree Charts and Karyotyping. We have seen how complicated genetics can be. There are may ways in which ...
Sturge-Weber syndrome with normal karyotype. Br Med J 1967; 2 :702 ... Sturge-Weber syndrome with normal karyotype.. Br Med J 1967; 2 doi: https://doi.org/10.1136/bmj.2.5553.702-c (Published 10 June ...
... This site provides an array of animations pertaining to genetic disorders. There ... If you know the author of Using Karyotypes to Predict Genetic Disorders, please help us out by filling out the form below and ... You just viewed Using Karyotypes to Predict Genetic.... Please take a moment to rate this material. ...
Karyotyping is the study of chromosomes so genetic disorders can be determined through this technique. ... Karyotyping is a boon in medical science. It helps in determining any defects and disorders and thus prevents chances of ... In simpler terms, karyotyping is a close study of chromosomes. What does a Karyotype Show? A karyotype shows the details of the ... Read on to understand karyotyping and be in sync with what you are doing. What is Karyotyping? Karyotyping is one of the many ...
In both karyotyping and microarray analysis, fetal cells were obtained via an invasive procedure such as amniocentesis (fetal ... However, like karyotyping, it may also detect abnormalities that do not have any clinical significance, which would warrant ... Reference: Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis; Ronald Wapner et al; N Engl J Med 2012; 367:2175- ... The study revealed that karyotyping and chromosomal microarray analysis are equally effective in identifying aneuploidies. ...
Karyotyping by Satish Verma. .A dark secret of double standard releases the hidden forces. You must bend backward to walk. This ... Karyotyping - Poem by Satish Verma. A dark secret of double standard, releases the hidden forces.. You must bend backward to ... 2/19/2018 6:12:20 PM #.35# You Are Here: Karyotyping Poem by Satish Verma - Poem Hunter ...
Observations on karyotypesEdit. StainingEdit. The study of karyotypes is made possible by staining. Usually, a suitable dye, ... Digital karyotypingEdit. Digital karyotyping is a technique used to quantify the DNA copy number on a genomic scale. Short ... Karyotypes are arranged with the short arm of the chromosome on top, and the long arm on the bottom. Some karyotypes call the ... Media related to Karyotypes at Wikimedia Commons. *Making a karyotype, an online activity from the University of Utahs Genetic ...
We applied these karyotyping tools to wild soybean, G. soja Sieb. and Zucc., which represents a large gene pool of potentially ... A Fluorescence in Situ Hybridization System for Karyotyping Soybean. Seth D. Findley, Steven Cannon, Kranthi Varala, Jianchang ... A Fluorescence in Situ Hybridization System for Karyotyping Soybean Message Subject (Your Name) has forwarded a page to you ... A Fluorescence in Situ Hybridization System for Karyotyping Soybean. Seth D. Findley, Steven Cannon, Kranthi Varala, Jianchang ...
Karyotyping cocktail for G. max W82:. On the basis of the above results, we were able to design a karyotyping cocktail for G. ... A repetitive element foundation for the soybean karyotyping cocktail:. To identify probes for karyotyping metaphase soybean ... 1983) renders chromosome preparation for karyotyping quite inefficient.. A powerful strategy that was developed for karyotyping ... During the karyotyping of P.I. 464890B, BAC GM_WBb0036C23, which in G. max W82 hybridizes to the distal end of the long arm of ...
  • The preparation and study of karyotypes is part of cytogenetics . (wikipedia.org)
  • Virtual karyotypes have dramatically higher resolution than conventional cytogenetics. (wikipedia.org)
  • This is approximately 1000-fold greater resolution than karyotypes obtained from conventional cytogenetics. (wikipedia.org)
  • METHODS: During a nine year period between 1989 and 1997, all results of CVS between 8 and 37 weeks of gestation provided by the Regional Cytogenetics Centre were analysed retrospectively by examining indications for CVS, weights of tissue received, gestational age at sampling and karyotype results. (biomedsearch.com)
  • Hi, if you want to know the karyotype of the HT-1080 grown in your lab, you'll need to have a metaphase prep made and have a cytogenetics lab look at it for you. (protocol-online.org)
  • Karyotyping has been the standard practice in recurrent pregnancy loss testing, but has major drawbacks in terms of high failure rates (20-40% cases), long turnaround times and a high risk of maternal cell contamination during culture that can significantly confound accurate results," said study author Trilochan Sahoo, M.D., FACMG, CombiMatrix's Vice President of Clinical Affairs and Director of Cytogenetics. (cnbc.com)
  • However, like karyotyping, it may also detect abnormalities that do not have any clinical significance, which would warrant counseling of the patient to remove any unwanted anxiety. (medindia.net)
  • This approach will be investigated both for biological dosimetry purposes, especially in low-dose contexts (count of abnormal cells, count of abnormalities per cell) and for research purposes (karyotype instability, tumorigenesis). (europa.eu)
  • Karyotyping is a test used to identify chromosome abnormalities as the cause of malformation or disease. (adam.com)
  • Acute myeloid leukemia (AML) patients with a complex karyotype (CK-AML) show at least 3 unrelated clonal cytogenetic abnormalities with notoriously poor outcome. (springer.com)
  • This paper provides a simple and convenient method to isolate aneuploid cells with complex karyotypes that cease to divide. (jove.com)
  • NEW YORK (GenomeWeb) - Single-cell sequencing can help reveal karyotype heterogeneity and may someday inform cancer treatment approaches, according to researchers led by the University of Groningen in the Netherlands. (genomeweb.com)
  • Preliminary results demonstrating the feasibility were obtained using hydrodynamic destruction of mitotic cells by capillary flow high gradient devices and monovariate (DNA quantification) flow karyotyping. (europa.eu)
  • For the characterization of the karyotype were analyzed 50 mitotic metaphases (I and II). (thefreelibrary.com)
  • The cocktail was then used to test a hypothesis of karyotype restructuring in the recent allotetraploid T . miscellus by comparing repeat distributions to its diploid progenitors, T . dubius and T . pratensis . (springer.com)
  • Digital karyotyping was performed on DNA from colorectal cancer cell lines DiFi and Hx48, and from the lymphoblastoid cells of a normal individual (GM12911, obtained from Coriell Cell Repositories, Camden, NJ). (pnas.org)
  • Historically, karyotypes have been obtained by staining cells after they have been chemically arrested during cell division. (wikipedia.org)
  • A tool combining the statistical precision of flow cytometry with single cell karyotyping will be developed. (europa.eu)
  • Is there a directory with the expected karyotype of such a cell line? (protocol-online.org)
  • Don't blame the ATCC, complete karyotype info on all the cell lines they have available is a herculean (and expensive)task, and one they have pretty much abandoned. (protocol-online.org)
  • Yes, there are cell line databases, but many do not include karyotype, or like the ATCC, the information is out-of-date. (protocol-online.org)