Mapping of the KARYOTYPE of a cell.
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.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in 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)
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)
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.
Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.
The possession of a third chromosome of any one type in an otherwise diploid cell.
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.
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).
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 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.
Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES.
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)
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.
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.
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).
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.
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.
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.
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.
A variation from the normal set of chromosomes characteristic of a species.
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.
A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
Aberrant chromosomes with no ends, i.e., circular.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
The part of a human or animal body connecting the HEAD to the rest of the body.
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.
PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
Actual loss of portion of a chromosome.
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.
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.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE DISORDERS.
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.
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.
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)
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)
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).
The age of the mother in PREGNANCY.
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.
Procedures for identifying types and strains of fungi.
The middle third of a human PREGNANCY, from the beginning of the 15th through the 28th completed week (99 to 196 days) of gestation.
Three or more consecutive spontaneous abortions.
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)
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)
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 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.
A condition of having no sperm present in the ejaculate (SEMEN).
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.
The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.
Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including MONOSOMY; TRISOMY; and MOSAICISM.
One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).
The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.
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.
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
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 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.).
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
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.
Deoxyribonucleic acid that makes up the genetic material of fungi.
The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.
A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.
Expulsion of the product of FERTILIZATION before completing the term of GESTATION and without deliberate interference.
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.
Dyneins that are responsible for intracellular transport, MITOSIS, cell polarization, and movement within the cell.
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.
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 C CHROMOSOMES of the human chromosome classification.
Validation of the SEX of an individual by inspection of the GONADS and/or by genetic tests.
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).
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 characteristic symptom complex.
An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.
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.
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).
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
Stretches of genomic DNA that exist in different multiples between individuals. Many copy number variations have been associated with susceptibility or resistance to disease.
Inability to reproduce after a specified period of unprotected intercourse. Reproductive sterility is permanent infertility.
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.
An infant during the first month after birth.
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 GROUP C CHROMOSOMES of the human chromosome classification.
Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.
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.
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.
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)
The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
Any method used for determining the location of and relative distances between genes on a chromosome.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
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)
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.
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 single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Laboratory techniques that involve the in-vitro synthesis of many copies of DNA or RNA from one original template.
Malformations of organs or body parts during development in utero.
The degree of replication of the chromosome set in the karyotype.
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)
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)
A specific pair of GROUP E CHROMOSOMES 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.
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.
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.
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 - ...
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,…. ...
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 ...
Background: Various genetic technologies have been employed in the identification of genomic complexity and refinement of prognostic classification of clinically heterogeneous disease of chronic lymphocytic leukemia (CLL). Objective: The present study of interphase cytogenetics and conventional karyotyping was undertaken to perform comprehensive analysis of CLL genetics with an approach to refine early prognostication of disease. Material & Methods: Retrospective analysis by fluorescence in situ hybridization (FISH) was carried out on total 671 patients of CLL at diagnosis between 2008 and 2015. Conventional cytogenetics studies were performed in 50 of 671 patients using CPG Oligonucleotide + IL-2 and TPA (12-O-Tetradecanyl Phorbol 13-acetate) for stimulation of lymphocytes cultures. Results: Interphase cytogenetics could detect recurrent abnormalities such as del(13q14), +12, del(17p13), del(11q22), del(6q23) in 71% of cases. The incidence of del(13q) was higher in Rai stage 0, I, II (p = 0.0005);
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.
Molecular karyotypes of H. bogdanii Wilensky, 1918 (2n = 14), and H. brevisubulatum Link, 1844 ssp. brevisubulatum (2n = 28), were characterized by physical mapping of several repetitive sequences. A total of 18 repeats, including all possible di- or trinucleotide SSR (simple sequence repeat) motifs and satellite DNAs, such as pAs1, 5S rDNA, 45S rDNA, and pSc119.2, were used as probes for fluorescence in situ hybridization on root-tip metaphase chromosomes. Except for the SSR motifs AG, AT and GC, all the repeats we examined produced detectable hybridization signals on chromosomes of both species. A detailed molecular karyotype of the I genome of H. bogdanii is described for the first time, and each repetitive sequence is physically mapped. A high degree of chromosome variation, including aneuploidy and structural changes, was observed in H. brevisubulatum. Although the distribution of repeats in the chromosomes of H. brevisubulatum is different from that of H. bogdanii, similar patterns between the two
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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
Despite significant advances in molecular genetic approaches, fluorescence in situ hybridization (FISH) remains the gold standard for the diagnostic evaluation of genomic aberrations in patients with chronic lymphocytic leukemia (CLL). Efforts to improve the diagnostic utility of molecular cytogenetic testing have led to the expansion of the traditional 4-probe CLL FISH panel. Not only do these efforts increase the cost of testing, they remain hindered by the inherent limitations of FISH studies - namely the inability to evaluate genomic changes outside of the targeted loci. While array-based profiling and next generation sequencing (NGS) have critically expanded our understanding of the molecular pathogenesis of CLL, these methodologies are not routinely used by diagnostic laboratories to evaluate copy number changes or the mutational profile of this disease. Mitogenic stimulation of CLL specimens with CpG-oligonucleotide (CpG-ODN) has been identified as a reliable and reproducible means of ...
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.
I need an answer about human karyotyping. Can u help me?I need an answer about karyotyping. I dont have much time because its getting late.
Epithelial tumors commonly show complex and variable karyotypes that obscure the identification of general patterns of the karyotypic evolution. To overcome some of these problems, we previously systematically analyzed the accumulated cytogenetic data from individual tumor types by using various sta …
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
Karyotyping analyzes all 23 pairs of chromosome but requires cells from the miscarriage tissue to first be grown in the laboratory, a process called cell culture. For this reason requirement, tissue that is passed at home is often unable to be tested with this particular method. About 20% or more of miscarriage samples fail to grow and thus no email address details are available. Additionally, karyotyping is unable to tell the difference between cells from the mother (maternal cells) and cells from the fetus. If a normal female result is available, it may be the correct result for the fetus or it might be maternal cell contamination (MCC) where the result actually originates from testing the mothers cells present in the pregnancy tissue rather than the fetal cells. MCC seems to occur in about 30% or more of the samples tested by traditional karyotype. Results from karyotyping usually take a few weeks to months another from the laboratory ...
Karyotyping analyzes all 23 pairs of chromosome but requires cells from the miscarriage tissue to first be grown in the laboratory, an activity called cell culture. For that reason requirement, tissue that is passed at home is frequently unable to be tested with this method. About 20% or even more of miscarriage samples fail to grow and thus no email address details are available. Additionally, karyotyping is unable to tell the difference between cells from the mother (maternal cells) and cells from the fetus. In case a normal female result is available, it may be the correct result for the fetus or it could be maternal cell contamination (MCC) in which the result actually originates from testing the mothers cells within the pregnancy tissue instead of the fetal cells. MCC appears to occur in about 30% or more of the samples tested by traditional karyotype. Results from karyotyping usually take a few weeks to months to come back from the laboratory ...
Karyotyping analyzes all 23 pairs of chromosome but requires cells from the miscarriage tissue to first be grown in the laboratory, an activity called cell culture. For this reason requirement, tissue that is passed at home is frequently unable to be tested with this particular method. About 20% or more of miscarriage samples neglect to grow and thus no email address details are available. Additionally, karyotyping is unable to tell the difference between cells from the mother (maternal cells) and cells from the fetus. In case a normal female result is available, it may be the correct result for the fetus or it can be maternal cell contamination (MCC) in which the result actually comes from testing the mothers cells within the pregnancy tissue rather than the fetal cells. MCC appears to occur in about 30% or more of the samples tested by traditional karyotype. Results from karyotyping usually have a few weeks to months to come back from the laboratory ...
Among the 38 cases with screen positive results by Momguard, 30 cases also had karyotyping results available. In three trisomy (T) 18 and three T13 cases, the Momguard results were concordant with the karyotyping results. For the T21 cases, except for one case belonging to the mid-risk zone, Momguard results from 23 out of 24 cases matched the karyotyping results ...
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. ...
Sort and pair the images of human chromosomes obtained in a scan. Find differences in the scans of the various patients to find out specific things that can cause disease, as well as the gender of the person.
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The dropping process has remained a highly manual technique for years, leaving an automation void between harvesters and microscopes. CellWriter™ Workstations close the gap by automating the dropping process, delivering quality spread interphase and metaphase nuclei for analysis.
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.
article{b90b44f9-6c40-4b6d-8e5b-01412a04885d, abstract = {Chromosome analysis by G-banding, spectral karyotyping (SKY) and fluorescence in situ hybridization (FISH) was per formed on 24 short-term cultured transitional cell bladder carcinomas and 5 cell lines established from bladder carcinomas. Except for one tumor with an apparently normal chromosomal constitution, clonal chromosome abnormalities were detected in all examined cases by the combined approach. The application of SKY and FISH techniques improved the karyotypic descriptions, originally based on C-banding only, by identifying 32 additional numerical changes, by establishing the chromosomal origin of 27 markers and 2 ring chromosomes, by redefining 53 aberrations and by detecting 15 hidden chromosomal rearrangements. No recurrent translocation, however, was detected. The most prominent: karyotypic feature was thus the occurrence of deletions and losses of whole chromosome copies indicating the importance of tumor suppressor genes in ...
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 ...
RESULTS Table shows patients sex, age, date of diagnosis, karyotype at diagnosis, FISH at diagnosis, date of BMT, donors sex, and karyotype and FISH at one year after BMT. It was possible to compare the results of karyotyping and FISH at diagnosis and one year after transplantation. At diagnosis, 10 patients presented Ph chromosome by cytogenetics and two (11 and 12) did not show metaphases that could be studied. FISH was positive in all except 2 (6 and 8), whose samples did not have enough cells for analysis. Cases that did not present cytogenetic results (11 and 12) presented positive BCR/ABL rearrangement by FISH. The percentage of cells with BCR/ABL rearrangement by FISH at diagnosis varied from 66 to 98%, with a mean of 81.25%. One year after transplantation, karyotyping was not possible in 3 cases (3, 6 and 9) due to lack of metaphases. In eight cases (2, 4, 5, 7, 8, 10, 11 and 12), the karyotype was normal while one patient (1) had persistence of the Ph chromosome. Two cases (4 and 8) ...
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
Intraspecific variation in chromosome structure may cause genetic incompatibilities and thus provides the first step in the formation of species. In ants, chromosome number varies tremendously from 2n = 2 to 2n = 120, and several studies have revealed considerable variation in karyotype within species. However, most previous studies were limited to the description of chromosome number and morphology, and more detailed karyomorphometric analyses may reveal additional, substantial variation. Here, we studied karyotype length, genome size, and phylogeography of five populations of the fungus-farming ant Trachymyrmex holmgreni in order to detect potential barriers to gene flow. Chromosome number and morphology did not vary among the five populations, but karyotype length and genome size were significantly higher in the southernmost populations than in the northern populations of this ant. Individuals or colonies with different karyotype lengths were not observed. Karyotype length variation appears to result
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 ...
Among other genetic causes of both female and male infertility there are small supernumerary marker chromosomes. Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes that cannot be unambiguously identified by sequencing or banding cytogenetics. The implication of sSMC in infertility could be due to a partial trisomy of some genes but also to mechanical effects perturbing meiosis. To identify sSMC it is necessary to proceed to chromosomal analysis by high definition karyotyping and/or FISH.. Breda Genetics panel recommended for this condition (EXOME PANEL):. Female infertility (AR, BMP15, BRCA1, CYP21A2, DHEAST, DIAPH2, FIGLA, FMR1, FOXL2, FSHR, HFM1, LHB, LHCGR, MCMDC1, MCM8, NOBOX, NR5A1, POF1B, PSMC3IP, SHBG, SRD5A1, SRD5A2, STAG3, TUBB8). plus. Karyotyping/FISH. References:. Mutations in TUBB8 and Human Oocyte Meiotic Arrest. Feng R, Sang Q, Kuang Y, Sun X, Yan Z, Zhang S, Shi J, Tian G, Luchniak A, Fukuda Y, Li B, Yu M, Chen J, Xu Y, Guo L, Qu R, Wang X, Sun Z, ...
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 ...
article{ffe9e1ae-909d-427e-8e29-66e3cbc0e09f, abstract = {The cytogenetic features (ploidy, complexity, breakpoints, imbalances) were ascertained in 783 abnormal multiple myeloma (MM) cases to identify frequently involved chromosomal regions as well as a possible impact of age/sex. The series included MM patients from the Mitelman Database of Chromosome Aberrations in Cancer and from our own laboratory. Hyperdiploidy was most common, followed by hypodiploidy, pseudodiploidy and tri-/tetraploidy. Most cases were complex, with a median of eight changes per patient. The distribution of modal numbers differed between younger and older patients, but was not related to sex. No sex- or age-related differences regarding the number of anomalies were found. The most frequent genomic breakpoints were 14q32, 11q13, 1q10, 8q24, 1p11, 1q21, 22q11, 1p13, 1q11, 19q13, 1p22, 6q21 and 17p11. Breaks in 1p13, 6q21 and 11q13 were more common in the younger age group. The most frequent imbalances were + 9, - 13, + ...
Older research outputs will score higher simply because theyve had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 151,344 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 79% of its contemporaries ...
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 ...
A karyotype test is basically a test that analyses your chromosomes. It tells you how many chromosomes a person has and looks at the structure of each chromosome individually and allows us to determine whether your embryos need additional screening before they are selected for implantation.. A karyotype can be performed on any tissue but most often it is done from a blood sample, a sample of amniotic fluid or a piece of placenta obtained through chorionic villi sampling. Karyotyping is a complex process that involves growing the cells, obtaining the chromosomes, staining and analysing the chromosomes and reporting the results. A karyotype is an actual photograph of the chromosomes from one cell.. We check the chromosome set of both partners to exclude the possibility of underlying chromosomal rearrangement problem and, from the patients perspective; a karyotype is usually a simple blood test. It is what happens to the blood after it is collected that is actually quite complex.. Sometimes a part ...
Introduction: One of the important causes of male infertility is aberration at the chromosomes. Aim: The main purpose of this study was to determine the frequency and types of chromosomal aberration in infertile/sterile men whose samples were analyzed in the Center for Cytogenetics of Faculty of Medicine University of Sarajevo in the last four years. Methods: A total of 353 infertile/sterile men, between the ages of 22-55 years, referred for cytogenetic analysis to the Center for Genetics of Faculty of Medicine during the period 2013-2016. Karyotyping was performed on peripheral blood lymphocytes by using the Giemsa trypsin banding (GTG) technique. Results: The structural and numerical chromosomal aberration in infertility/ sterility of men found with the incidence of 6% (20/353). Out of the 20 patients with abnormal cytogenetic diagnosis, structural chromosome abnormalities were observed in 17 (85%) patients and 3 (15%) with numerical aberrations. The type of aberrations mostly found were ...
Background: Robertsonian translocations are structural chromosomal abnormalities caused by fusion of two acrocentric chromosomes. In carriers of such translocatio...
A testing method that makes a certain characteristic of chromosomes easier to see. A karyotype is the systematic arrangement, using images, of the 46 human chromosomes of a cell. Karyotypes are examined for deviations from the expected arrangement, number, size, shape or other characteristics of the chromosomes. Each chromosome pair has a characteristic banding pattern. To make the banding pattern easier to see, a dye called Giemsa may be used as a stain. This process is also referred to as G-banding. G-banding karyotyping and other cytogenetic tests provide doctors with information that contributes to determining the best treatment approach for an individual patient. The test takes longer than the FISH test, but has the advantage of being able to detect any changes that are visible because it does not rely on specific probes. Usually, both tests are done on samples from the marrow, especially at the time of diagnosis.. ...
A testing method that makes a certain characteristic of chromosomes easier to see. A karyotype is the systematic arrangement, using images, of the 46 human chromosomes of a cell. Karyotypes are examined for deviations from the expected arrangement, number, size, shape or other characteristics of the chromosomes. Each chromosome pair has a characteristic banding pattern. To make the banding pattern easier to see, a dye called Giemsa may be used as a stain. This process is also referred to as G-banding. G-banding karyotyping and other cytogenetic tests provide doctors with information that contributes to determining the best treatment approach for an individual patient. The test takes longer than the FISH test, but has the advantage of being able to detect any changes that are visible because it does not rely on specific probes. Usually, both tests are done on samples from the marrow, especially at the time of diagnosis.. ...
Karyotype definition, the chromosomes of a cell, usually displayed as a systematized arrangement of chromosome pairs in descending order of size. See more.
Cytogenetic studies were performed in 95 adults with acute leukemia, 39 (41%) of whom had abnormal karyotypes in their leukemic cells. The karyotypes were grouped according to the Denver-Chicago classification, and abnormalities were correlated with clinical variables. The frequency and quality of abnormality was not influenced by age, morphologic type of leukemia, or prior treatment. The frequency of abnormal karyotypes was increased in patients with increasing leukocytosis. Hypodiploidy adversely affected response to treatment and survival. D or E group chromosome deletions were associated with a decreased response to treatment and survival, whereas patients with extra D or E chromosomes had an improved prognosis. The overall distribution of chromosomal abnormalities in the leukemic cells deviated significantly from the expected for random distribution. D+, E+, and G- abnormalities were significantly more frequent than expected. Patients with marrow leukemic cell aneuploidy showed a loss of ...
This Karyotyping Lesson Plan is suitable for 10th Grade. Tenth graders investigate the placement of chromosomes in a karyotype and look for any disorder that may be present. The interactions and their affect on the behavior of the entire system is examined.
Graphical representation o the idealiwed human diploid karyotype, shqwin the organisation o the genome intae chromosomes. This drawin shaws baith the female (XX) an male (XY) versions o the 23rd chromosome pair. Chromosomes are shawn aligned at thair centromeres. The mitochondrial DNA is nae shawn ...
following procedures used routine technique for karyotyping using lig Giemsa stain is the most commonly used staining method that allow identification of each individual chromosome, on the basis of a distinctive and reliable pattern of alternate light and dark ban
Ive just received the Karyotyping results on the baby from my last miscarriage and was wondering if anyone has had similar. The report says abnormal
TY - JOUR. T1 - NPM1 gene deletions in myelodysplastic syndromes with 5q- and complex karyotype. AU - Ammatuna, Emanuele. AU - Panetta, Paola. AU - Agirre, Xabier. AU - Ottone, Tiziana. AU - Lavorgna, Serena. AU - Calasanz, Maria José. AU - Lo-Coco, Francesco. PY - 2011/5. Y1 - 2011/5. KW - 5q-. KW - Myelodysplastic syndromes. KW - Npm1 deletions. UR - http://www.scopus.com/inward/record.url?scp=79955738486&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=79955738486&partnerID=8YFLogxK. U2 - 10.3324/haematol.2010.038620. DO - 10.3324/haematol.2010.038620. M3 - Article. C2 - 21393327. AN - SCOPUS:79955738486. VL - 96. SP - 784. JO - Haematologica. JF - Haematologica. SN - 0390-6078. IS - 5. ER - ...
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This human cell line has a hypertriploid chromosome number. The modal chromosome number was 72 occurring in 26% of the cells and the rate of higher ploidies was at 1.2%. Eighteen markers were common.They are: t(1q,?), M2,M3, del(3) (p21), der(5)t(5;?) (q35;?), del(6) (q21), t(11q14q), t(11;11) (p15;q11), der(14)t(2;14) (q21;q32), t(17q,?), M13, M14, M15, M16, M17, der(8)t(8;?), t(9p,?) and 19pt. Of these M13 was paired. Normal N14 was not found. N6 was single copied, X had 3 copies and N18 had 4 copies in each cell ...
Liehr T, Mrasek K, Hinreiner S, Reich D, Ewers E, Bartels I, Seidel J, Emmanuil N, Petesen M, Polityko A, Dufke A, Iourov I, Trifonov V, Vermeesch J, Weise A. Small supernumerary marker chromosomes (sSMC) in patients with a 45,X/46,X,+mar karyotype - 17 new cases and a review of the literature. Sex Dev 1: 353-362, 2007. ...
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In the first cytogenetic study of the recently proposed family Myerslopiidae the male karyotype of Mapuchea chilensis (Nielson, 1996) was analyzed using conventional chromosome staining, AgNOR- and C-bandings, and fluorescence in situ hybridization (FISH) with 18S rDNA and (TTAGG)n telomeric probes. A karyotype of 2n = 16 + XY, NOR on a medium-sized pair of autosomes, subterminal location of C-heterochromatin, and presence of (TTAGG)n telomeric sequence were determined. Additionally, the male internal reproductive system was studied.
Abnormal Karyotype in Single Reported Female Patient Symptom Checker: Possible causes include Syndesmodysplasic Dwarfism. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
Mutational landscape and clinical outcome of patients with de novo acute myeloid leukemia and rearrangements involving 11q23/KMT2A. Proc Natl Acad Sci U S A. 2020 10 20; 117(42):26340-26346 ...
Multicolor fluorescence in-situ hybridization (M-FISH) techniques provide color karyotyping that allows simultaneous analysis of numerical and structural abnormalities of whole human chromosomes. Chromosomes are stained ...
The cytogenetics is a branch of genetics that includes the study of chromosomal structure, function, properties, behaviour during the cell division (mitosis and meiosis) and its involvement in a disease condition.
Giant neutrophils derived from tetraploid leukemic clone in an acute myeloblastic leukemia: cytofluorometric study.: Near-tetraploid chromosomes were observed i
Nowadays the role of genetic findings in determining the diagnosis, therapy and prognosis of acute myeloid leukemia (AML) has become more valuable. To improve and validate the detection of clonal chromosomal aberrations in leukemia, we designed a combined application of karyotyping with multiplex reverse transcription-polymerase chain reaction (RT-PCR) and fluorescence in situ hybridization (FISH), and addressed the expression and distribution of fusion genes among the subtypes of Chinese adult patients with de novo AML. Multiplex RT-PCR assays were performed on 477 samples from newly diagnosed AML patients, and cytogenetic data were obtained from 373 of them by R or G banding techniques and those in some cases were confirmed by FISH. The PCR products in some suspected cases were tested by two-directional sequencing. The results showed that except unqualified samples, fusion genes were detected by multiplex RT-PCR in 211 of 474 patients (44.51%), including AML1-ETO, CBFβ-MYH11, PML-RARα, ...
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This work is licensed under a Creative Commons Attribution-NonCommercial 3.0 Unported License which allows users to read, copy, distribute and make derivative works for non-commercial purposes from the material, as long as the author of the original work is cited properly. ...
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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. ...
"Karyotyping". National Institute of Health. Retrieved 7 May 2014. Montag, M; van der Ven, K; Rösing, B; van der Ven, H (2009 ... Karyotyping involves performing an amniocentesis in order to study the cells of an unborn fetus during metaphase 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 ...
"Karyotyping , Learn Science at Scitable". www.nature.com. Retrieved 2019-10-14. "NIH Fact Sheets - Genetic Testing: How it is ... or karyotypes for clinical purposes." It can provide information about a person's genes and chromosomes throughout life. There ...
Karyotype' as a term has multiple meanings, all of which are used here. It may refer to a person's chromosome complement, to ... Pentasomy X, a karyotype of five X chromosomes, is another major differential diagnosis. The phenotype of pentasomy X is ... The formal term for the karyotype observed in tetrasomy X is 48,XXXX, as the condition is typified by a 48-chromosome ... "Genetics Glossary: Karyotype". National Human Genome Research Institute. Retrieved 12 April 2021. Linden MG, Bender BG, ...
These included digital karyotyping, which allows for quantitative characterization of amplifications and deletions at the DNA ... Wang TL, Maierhofer C, Speicher MR, Lengauer C, Vogelstein B, Kinzler KW, Velculescu VE (December 2002). "Digital karyotyping ...
Hu M, Yao J, Polyak K (2006). "Methylation-specific digital karyotyping". Nat Protoc. 1 (3): 1621-36. doi:10.1038/nprot. ... Digital Karyotyping: Detects copy number variation using genomics tags obtained via restriction enzyme digests. These tags are ... "Digital karyotyping reveals frequent inactivation of the dystrophin/DMD gene in malignant melanoma". Cell Cycle. 6 (2): 189-98 ...
See karyotype). Recherches sur la composition et la signification de l'œuf 1868 Full text available from Archive.org PDF La ...
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 ...
Eighty percent of these patients have positive sex chromatin, and their karyotypes may vary widely, and with many mosaics. The ... If the cells are chromatin positive, the diagnosis is made; testicular biopsy and karyotyping are not necessary. If the buccal ... Such anaphase lag could account for the largest minority of karyotypes, the mosaics XY/XXY and XX/XXY. ...
This technique allows for karyotyping at higher speeds than with previous methods and was shown to be accurate using Chinese ... "flow karyotyping" of cells. In flow karotyping, isolated metaphase chromosomes are stained and measured in a flow ... "High-speed quantitative karyotyping by flow microfluorometry". Clinical Chemistry. 21 (9): 1258-62. PMID 1170959. Siegel, EB ( ...
karyotyping identifies regions of large chromosomal abnormalities. CGH provides unbiased coverage and allows for small-scale ... Karyotyping of cultured cells may be biased towards preferential outgrowth of select tumour cell subpopulations. Limited ... This may be done through karyotyping or comparative genomic hybridization (CGH) to detect chromosomal abnormalities. Sequencing ...
In a normal human karyotype, five chromosomes are considered metacentric: chromosomes 1, 3, 16, 19, and 20. In some cases, a ... For example, the standard house mouse karyotype has only telocentric chromosomes. Humans do not possess telocentric chromosomes ... and Karyotype Evolution". The American Journal of Human Genetics. 82 (2): 261-82. doi:10.1016/j.ajhg.2007.11.009. PMC 2427194. ... "Karyotypes, Chromosomes, and Translocations". Mouse Genetics: Concepts and Applications. Oxford: Oxford University Press. pp. ...
A karyotype is the characteristic chromosome complement of a eukaryote species. The preparation and study of karyotypes is part ... Stebbins, G. L. (1950). "Chapter XII: The Karyotype". Variation and Evolution in Plants. New York, NY: Columbia University ... 2004). "Genome duplication in the teleost fish Tetraodon nigroviridis reveals the early vertebrate proto-karyotype". Nature. ... the same cannot be said for their karyotypes, which are highly variable between species in chromosome number and in detailed ...
Vladimir E. Gokhman (2009). Karyotypes of Parasitic Hymenoptera. Springer. p. 60. ISBN 978-1-4020-9806-2. B.R. Pitkin (June 7, ...
This number, along with the visual appearance of the chromosome, is known as the karyotype, and can be found by looking at the ... Sbilordo SH, Martin OY, Ward PI (2010). "The karyotype of the yellow dung fly, Scathophaga stercoraria, a model organism in ... Huang L, Nesterenko A, Nie W, Wang J, Su W, Graphodatsky AS, Yang F (2008). "Karyotype evolution of giraffes (Giraffa ... Yoshido A, Bando H, Yasukochi Y, Sahara K (June 2005). "The Bombyx mori karyotype and the assignment of linkage groups". ...
... can be clinically diagnosed through karyotyping. Facial dysmorphia and other somatic abnormalities may be reason to ...
... is used in karyotyping. Silver nitrate stains the nucleolar organization region (NOR)-associated protein, ...
Shen, Yun-Guang; Wang, Zhong-Lang; Guan, Kai-Yun (2007). "Karyotypes of thirteen species of Iris L. from China". Acta ... Shen, Yun-Guang; Wang, Zhong-Lang; Guan, Kai-Yun (2007). "Karyotypes of thirteen species of Iris L. from China". Acta ... Xiaoying, Bi; Chih, Zhao Wei; Yang, Zheng; Dongsheng, Li (2011). "Orris root crude Chromosome technology and karyotyping" (PDF ...
The karyotype is 2n = 52; 20 metacentric and submetacentric, 10 subtelocentric, and 22 acrocentric and telocentric chromosomes ...
The karyotype has 2n = 54. The Y chromosome is present, unlike in the cases of its relatives E. lutescens and E. tancrei. The ...
Its karyotype is 2n=74. Its natural habitat is not under threat and the International Union for Conservation of Nature has ... Retrieved 23 November 2015.old-form url Capanna, E.; Merani, M.S. (1981). "Karyotypes of Somalian rodent populations". Monitore ...
The karyotype has 2n = 44. Its sex chromosomes are abnormally large, while the other two species in Tokudaia have lost their Y ...
In 1956, a karyotype analysis was carried out on 40 species of Iris, belonging to the subgenera Eupogoniris and Pogoniris. It ... "Karyotype analysis of bearded iris". Bot Gaz. 117 (4): 265-293. doi:10.1086/335916. Retrieved 12 September 2015. Ayatollahi, S. ... found that 24-chromosome tall bearded species could be divided into 3 karyotypes of Iris pallida. Iris kashmiriana has 2 pairs ...
Musilova, P.; Kubickova, S.; Vahala, J.; Rubes, J. (27 March 2013). "Subchromosomal karyotype evolution in Equidae". Chromosome ...
Wang, Yan Limei; Wei, Yan Sha (January 1999). "Karyotype Analysis in Iris Tenuifolia". Journal of Qiqihar University (Natural ...
Its karyotype has 2n = 28. D'Elia, G. (2016). "Reithrodon typicus". IUCN Red List of Threatened Species. 2016: e. ...
The karyotype includes 34 chromosomes. A. caenosus mostly occurs in Yungas vegetation and breeds mainly during the winter. It ... The karyotype is separated from that of A. lutescens by three Robertsonian translocations. Members of the Akodon boliviensis ... and distinctive karyotype. Myers and colleagues had included the name lutescens J.A. Allen, 1901, as a subspecies of Akodon ... The karyotype includes 34 chromosomes with a fundamental number of 40 major arms (2n = 34, FN = 40). The autosomes includes ...
Inferred from CMA Karyotype Composition". The Horticultural Journal. 85 (2): 115-121. doi:10.2503/hortj.MI-078. Oueslati, Amel ...
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 ...
Karyotyping is a test used to identify chromosome abnormalities as the cause of malformation or disease. The test can be ... Karyotyping is a test used to identify chromosome abnormalities as the cause of malformation or disease. The test can be ...
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 ...
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 ... Karyotyping activity with case histories from the University of Arizonas Biology Project. Printable karyotype project from ... Although much is known about karyotypes at the descriptive level, and it is clear that changes in karyotype organization has ...
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, ...
13 works Search for books with subject Plant karyotypes. Search. Karyotype analysis of Siberian larch (Larix sibirica Ledb. and ...
... Gerry Chu gchu at pharmdec.wustl.edu Fri Jun 24 05:19:19 EST 1994 *Previous message: Proteins - Higher Functions ...
Virtual karyotype is the digital information reflecting a karyotype, resulting from the analysis of short sequences of DNA from ... A karyotype (Fig 1) is the characteristic chromosome complement of a eukaryote species. A karyotype is typically presented as ... The status of the 1p/19q loci can be detected by FISH or virtual karyotyping. Virtual karyotyping has the advantage of ... The end product does not yet have a consistent name, and has been called virtual karyotyping, digital karyotyping, molecular ...
... 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 ...
Complex karyotype acute myeloid leukemia (CK-AML) has a dismal outcome with current treatments, underscoring the need for new ... Complex karyotype acute myeloid leukemia (CK-AML) has a dismal outcome with current treatments, underscoring the need for new ... Venetoclax and pegcrisantaspase for complex karyotype acute myeloid leukemia. *Ashkan Emadi. ORCID: orcid.org/0000-0003-3769- ... Emadi, A., Kapadia, B., Bollino, D. et al. Venetoclax and pegcrisantaspase for complex karyotype acute myeloid leukemia. ...
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 ...
... spectral karyotyping include Detection of Copy Number Alterations Using Single Cell Sequencing, A Bioluminescent and ... Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease, Chromosome ... together known as its karyotype. Many chromosomal abnormalities are associated with disease. Each chromosome in a karyotype can ... Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease. Wissam A. AbouAlaiwi1 ...
Schrader, O., Ahne, R., Fuchs, J.: Karyotype analysis of Daucus carota L. using Giemsa C-Banding and FISH of 5S and 18S/25S ... Essad, S.: [Banding and biometry applied to karyotype analysis in Daucus carota L.] - Agronomie 5: 871-876, 1985. [In French] ... Navratilova, A., Neumann, P., Macas, J.: Karyotype analysis of four Vicia species using in situ hybridization with repetitive ... Paesold, S., Borchardt, D., Schmidt, T., Dechyeva, D.: A sugar beet (Beta vulgaris L.) reference FISH karyotype for chromosome ...
Transcript of human karyotype. The Human. Karyotype Index What´s DNA? Human karyotype Genetic diseases composed of? the central ... Central dogma of molecular Duplication Transcription Translation Human Karyotype Genetic Most genetic disorders are quite rare ...
To evaluate the appropriateness of fetal karyotyping after prenatal sonographic diagnosis of isolated unilateral or bilateral ... Karyotyping. Male. Retrospective Studies. Ultrasonography, Prenatal*. From MEDLINE®/PubMed®, a database of the U.S. National ... Six women (12%) had positive family histories of clubfoot; however, no cases of aneuploidy were found by fetal karyotype ... OBJECTIVE: To evaluate the appropriateness of fetal karyotyping after prenatal sonographic diagnosis of isolated unilateral or ...
... Patient Bs Karyotype Place this chromosome in the partially completed karyotype below by clicking on its ...
A karyotype is generally an image of a completed and arranged set of chromosomes as viewed through a light microscope. A ... A karyotype a complete set of chromosomes of a particular species. The number and appearance of chromosomes can very ... The latter is what determines whether a developing embryo develops as a physiological male or female, with a male karyotype ... Indeed, some people insist on doing karyotypes of their unborn babies early in their pregnancies to test for such disorders, ...
  • Karyotyping is a test to examine chromosomes in a sample of cells. (medlineplus.gov)
  • Karyotyping is the process by which photographs of chromosomes are taken in order to determine the chromosome complement of an individual, including the number of chromosomes and any abnormalities. (wikipedia.org)
  • The term karyotype is also used for the complete set of chromosomes in a species or in an individual organism and for a test that detects this complement or measures the number. (wikipedia.org)
  • Karyotypes describe the chromosome count of an organism and what these chromosomes look like under a light microscope. (wikipedia.org)
  • It is New Latin from Ancient Greek κάρυον karyon, "kernel", "seed", or "nucleus", and τύπος typos, "general form") The next stage took place after the development of genetics in the early 20th century, when it was appreciated that chromosomes (that can be observed by karyotype) were the carrier of genes. (wikipedia.org)
  • Lev Delaunay [ru] in 1922 seems to have been the first person to define the karyotype as the phenotypic appearance of the somatic chromosomes, in contrast to their genic contents. (wikipedia.org)
  • Investigation into the human karyotype took many years to settle the most basic question: how many chromosomes does a normal diploid human cell contain? (wikipedia.org)
  • The karyotype of humans includes only 46 chromosomes. (wikipedia.org)
  • Six different characteristics of karyotypes are usually observed and compared: Differences in absolute sizes of chromosomes. (wikipedia.org)
  • A karyotype is typically presented as an image of the chromosomes from a single cell arranged from largest (chromosome 1) to smallest (chromosome 22), with the sex chromosomes (X and Y) shown last. (wikipedia.org)
  • The normal human karyotype consists of 46 chromosomes. (dictionary.com)
  • The human karyotype contains forty-six chromosomes, twenty-three from each parent. (dictionary.com)
  • Karyotyping Karyotyping is when geneticists look at chromosomes to get clues if there is genetic abnormality. (prezi.com)
  • In simpler terms, karyotyping is a close study of chromosomes. (indiaparenting.com)
  • A karyotype shows the details of the chromosomes. (indiaparenting.com)
  • Check if the 46 chromosomes are present Check the presence of the two identical chromosomes and 2 sex chromosomes Check if there are any missing or rearranged chromosomes What a Karyotype does not show? (indiaparenting.com)
  • While a karyotype provides significant in-depth insight into the chromosomes there are some things it will not show. (indiaparenting.com)
  • Blood Karyotyping is a very helpful method of studying chromosomes and predicting genetic disorder. (indiaparenting.com)
  • The advantage of chromosomal microarray analysis is its high resolution and sensitivity, which allows detection of events at the level of genes, as opposed to the level of chromosomes for karyotyping. (medindia.net)
  • A karyotype is the number and appearance of chromosomes in the nucleus of a eukaryotic cell . (wikipedia.org)
  • The next stage took place after the development of genetics in the early 20th century, when it was appreciated that chromosomes (that can be observed by karyotype) were the carrier of genes. (wikipedia.org)
  • 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. (genetics.org)
  • 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. (genetics.org)
  • To resolve these potential problems and to provide a useful resource for correlating physical soybean chromosomes to the other available soybean mapping resources, we undertook efforts to generate a soybean karyotype map using fluorescent in situ hybridization (FISH) with chromosome-specific, pseudomolecule- and repeat-derived DNA probes. (genetics.org)
  • A karyotype a complete set of chromosomes of a particular species. (wikibooks.org)
  • 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). (wikibooks.org)
  • A karyotype is generally an image of a completed and arranged set of chromosomes as viewed through a light microscope. (wikibooks.org)
  • A karyotype is the representation of the chromosomes of any type of cell. (ehow.co.uk)
  • Count the number of pairs of chromosomes in the karyotype, except the sex chromosomes, the last two in the set. (ehow.co.uk)
  • If the karyotype has an extra 21st chromosome, write "47, XX, +21, Trisomy-21," indicating the subject is a woman with 47 chromosomes and the extra chromosome is in the 21st pair. (ehow.co.uk)
  • Karyotype is a test to identify and evaluate the size, shape, and number of chromosomes in a sample of body cells. (adventisthealthcare.com)
  • In order to precisely recognize and karyotype Brassica napus L. chromosomes, C 0 t -1 DNA was extracted from its genomic DNA, labeled withbiotin-11-dUTP and in situ hybridized. (ingentaconnect.com)
  • Both direct interphase analysis using FISH and analysis of chromosomes through karyotyping have proven to be successful in providing relevant chromosomal information. (prweb.com)
  • This karyotype shows the 46 chromosomes found in most cell nuclei in a man's body. (sciencephoto.com)
  • Karyotypes are an arrangement of chromosomes based on their appearance under a light microscope. (sciencephoto.com)
  • The human karyotype is composed of 23 pairs of chromosomes, including 1 pair of sexual chromosomes (XX for woman, XY for man). (sciencephoto.com)
  • A comprehensive unit on genetics and the study of human chromosomes, it includes one each of our six karyotyping sets, with complete instructions and key sheets. (boreal.com)
  • The intracellular staining method of chromosomes with DNA specific fluorochromes will be improved especially for dual parameter (DNA content and base pair composition quantification) intracellular flow karyotype analysis. (europa.eu)
  • Tenth graders investigate the placement of chromosomes in a karyotype and look for any disorder that may be present. (lessonplanet.com)
  • 2. How many total chromosomes are there in the karyotype of a normal human? (study.com)
  • Karyotypes are images which depict individual chromosomes. (brightstorm.com)
  • A karyotype is an ordered display of an individual's chromosomes. (edumedia-sciences.com)
  • A karyotype provides information about the number of chromosomes as well as about abnormalities in the chromosome structure. (edumedia-sciences.com)
  • The representation of the systematically arranged chromosomes of a cell is called the karyotype of the cell (Figs. 3 and 4). (springer.com)
  • Multicolor fluorescence in-situ hybridization (M-FISH) techniques provide color karyotyping that allows simultaneous analysis of numerical and structural abnormalities of whole human chromosomes. (utexas.edu)
  • The karyotypes showed a chromosome number of 2 n = 2 x = 16, with metacentric chromosomes, except for the eighth submeta- to acrocentric pair. (scielo.br)
  • Karyotypes have been used for several decades to identify chromosomal abnormalities in both germline and cancer cells. (wikipedia.org)
  • 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. (dictionary.com)
  • Karyotype is a complete profile of an individuals chromosomal set up. (indiaparenting.com)
  • A recent study published in the New England Journal of Medicine evaluated the accuracy and efficacy of chromosomal microarray as compared to karyotyping in prenatal diagnosis. (medindia.net)
  • The study revealed that karyotyping and chromosomal microarray analysis are equally effective in identifying aneuploidies. (medindia.net)
  • Albert PS, Gao Z, Danilova TV, Birchler JA (2010) Diversity of chromosomal karyotypes in maize and its relatives. (springer.com)
  • Karyotyping also may be done to find out whether chromosomal problems may have caused a fetus to be stillborn. (adventisthealthcare.com)
  • In some centers, women with a risk of having a fetus with a chromosomal abnormality (without fetal ultrasound anomalies) will only be offered a rapid targeted test, whereas in other centres, they can choose between a rapid targeted test and karyotyping or, alternatively, are offered routine karyotyping only. (hindawi.com)
  • However, minor differences in electrophoretic karyotypes were detected among sequential isolates from 50% of the patients studied, suggesting the occurrence of chromosomal rearrangements or deletions in vivo. (asm.org)
  • The flow karyotyping method allows quantification of chromosomal DNA by flow cytometry and thus analysis of chromosomal aberrations on chromosome suspensions. (europa.eu)
  • Chromosomal changes of this type occur through ionising radiation exposure and are involved in karyotype instability and tumorigenesis. (europa.eu)
  • In particular, I would like to be screened for the kind of obvious chromosomal abnormalities that would show up in a karyotype (and could perhaps be detected by even more basic testing). (eupedia.com)
  • Biological Industries offers a complete range of products and reagents for your cytogenetic karyotyping needs from the start to finish, including colcemid, colchicine, PHA and a cell synchronization kit for your high resolution chromosomal studies. (bioind.com)
  • Thus, in order to assist in the chromosomal and evolutionary knowledge of the genus Panstrongylus and Triatominae subfamily, this study aimed to analyze the karyotype of P lutzi and compare with karyotypes already described for other species of the triatomines. (thefreelibrary.com)
  • One of the key concepts of the genome system theory is karyotype chromosomal coding: chromosome sets function as gene organizers and the genomic topologies provide a context for regulating gene expression and function. (frontiersin.org)
  • In this mini-review, the concept of chromosomal coding will be briefly discussed, including: 1) the rationale for searching for new genomic inheritance, 2) chromosomal or karyotype coding (hypothesis, model, and its predictions), and 3) the significance and evidence of chromosomal coding (maintaining and changing the system inheritance-defined bio-systems). (frontiersin.org)
  • Karyotypes can be studied to determine an organism's chromosomal makeup and to detect genetic defects. (openstudy.com)
  • Array Comparative Genomic Hybridization (aCGH) is a high resolution karyotype analysis solution for the detection of unbalanced structural and numerical chromosomal alterations with high-throughput capabilities. (creative-bioarray.com)
  • Karyotyping is a test used to identify chromosome abnormalities as the cause of malformation or disease. (medlineplus.gov)
  • 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)
  • In humans, cytologists have used karyotypes to help identify genetic abnormalities a baby might have before it is born. (wikipedia.org)
  • Any variation from the normal karyotype can cause developmental abnormalities. (reference.com)
  • 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)
  • The study of karyotypes is important for cell biology and genetics , and the results may be used in evolutionary biology ( karyosystematics ) [5] and medicine . (wikipedia.org)
  • The study of karyotypes is important to the science of genetics and cell biology. (reference.com)
  • Magnetic Karyotypes Demonstration Kit is a large scale demonstration that shows students the method used to develop karyotypes from a simulated chromosome sphere - your white board becomes the microscope slide! (flinnsci.com)
  • Since the information obtained from karyotyping can have a profound impact on your life, you may want to see a doctor who specializes in genetics (geneticist) or a genetic counselor . (adventisthealthcare.com)
  • The main methods used for creating virtual karyotypes are array-comparative genomic hybridization and SNP arrays. (wikipedia.org)
  • Recently, platforms for generating high-resolution karyotypes in silico from disrupted DNA have emerged, such as array comparative genomic hybridization (arrayCGH) and SNP arrays. (wikipedia.org)
  • To prepare the karyotype of an organism. (dictionary.com)
  • Test your ability to understand karyotypes and the steps taken to determine the karyotype of an organism. (study.com)
  • A karyotype (Fig 1) is the characteristic chromosome complement of a eukaryote species. (wikipedia.org)
  • Karyotype analysis in several South American species of Solanum a. (ingentaconnect.com)
  • Karyotype data do not allow separation of L. rantonnei from species of Solanum . (ingentaconnect.com)
  • Overall, we present a comparison of cytogenetic and molecular cytogenetic patterns of four species from genus Mystus providing insights into their karyotype diversity in the genus. (planetcatfish.com)
  • Metaphase chromosome preparation was made using standard hypotonic solution, methanol acetic-acid fixation followed by Giemsa staining for karyotyping of the species. (scialert.net)
  • Moscone, E.A. Klein, F. Lambrou, M. Fuchs, J. Schweitzer, D. (1999) Quantitative karyotyping and dual-color FISH mapping of 5S and 18S-25S rDNA probes in the cultivated Phaseolus species (Legumninosae). (nenno.it)
  • The karyotypes of four South American species of Cestrum ( C. capsulare, C. corymbosum, C. laevigatum and C. megalophylum ) were studied using conventional staining, C-CMA/DAPI chromosome banding and FISH with 45S and 5S rDNA probes. (scielo.br)
  • The differences in band patterns among the species studied here, along with data from other nine species reported in the literature, suggest that the bands are dispersed in an equilocal and non-equilocal manner and that structural rearrangements can be responsible for internal karyotype diversification. (scielo.br)
  • Virtual karyotype is the digital information reflecting a karyotype, resulting from the analysis of short sequences of DNA from specific loci all over the genome, which are isolated and enumerated. (wikipedia.org)
  • Conventional karyotypes can assess the entire genome for changes in chromosome structure and number, but the resolution is relatively coarse, with a detection limit of 5-10Mb. (wikipedia.org)
  • In addition, reproducible and unique FISH patterns generated by three carrot genome-specific repeats (DCRE22, DCRE16, and DCRE9) and two transposon families ( DcSto and Krak ) in combination with telomeric and centromeric reference probes allowed identification of chromosome pairs and construction of detailed carrot karyotypes. (springer.com)
  • Microarray karyotyping is a useful tool for analyzing the genome structures of wine yeasts. (nih.gov)
  • Article: "Gibbon Genome and the Fast Karyotype Evolution of Small Apes" http://www.nature.com/nature/journal/v513/n7517/full/nature13679.html?WT.ec_id=NATURE-20140911 . (science20.com)
  • Aneuploidy leads to genome instability, which eventually produces cell cycle-arrested cells with complex karyotypes. (jove.com)
  • Several lines of evidence strongly indicate that aneuploidy triggers genome instability, ultimately generating cells with complex karyotypes that arrest their proliferation. (jove.com)
  • Current methods for the analysis of cellular genetic content include comparative genomic hybridization (CGH) ( 3 ), representational difference analysis ( 4 ), spectral karyotyping/multiplex-fluorescence in situ hybridization (M-FISH) ( 5 , 6 ), microarrays ( 7-10 ), and traditional cytogenetics. (pnas.org)
  • Spectral karyotyping (SKY) showed that translocations were very varied and mostly unbalanced, with no translocation occurring in more than three lines. (pnas.org)
  • Karyotyping of the cell lines by multicolour chromosome painting-spectral karyotyping (SKY)-distinguished several patterns of chromosome abnormality and genomic instability, some of them not previously described in epithelial tumors. (pnas.org)
  • We report the case of a child with partial trisomy of the short arm of chromosome 17, which was characterized by 24-color spectral karyotyping (SKY) and other fluorescence in situ hybridization (FISH) methods. (ovid.com)
  • Copy number variations in ultrasonically abnormal late pregnancy fetuses with normal karyotypes. (harvard.edu)
  • Despite the diversity of platforms, ultimately they all use genomic DNA from disrupted cells to recreate a high resolution karyotype in silico. (wikipedia.org)
  • Digital karyotyping provides a broadly applicable means for systematic detection of DNA copy number changes on a genomic scale. (pnas.org)
  • It detects genomic copy number variations at a higher resolution for level than conventional karyotyping or chromosome-based comparative genomic hybridization (CGH). (wikipedia.org)
  • Schoch C, Kern W, Kohlmann A, Hiddemann W, Schnittger S, Haferlach T. Acute myeloid leukemia with a complex aberrant karyotype is a distinct biological entity characterized by genomic imbalances and a specific gene expression profile. (nature.com)
  • It has been known for a long time that many carcinomas have highly aneuploid karyotypes ( 1 ), suggesting that one of the steps selected for during tumor evolution results in genomic instability ( 2 , 3 ). (pnas.org)
  • Microarray karyotyping of commercial wine yeast strains reveals shared, as well as unique, genomic signatures. (nih.gov)
  • To investigate this, we have determined genomic differences among several Saccharomyces cerevisiae wine strains by using a "microarray karyotyping" (also known as "array-CGH" or "aCGH") technique. (nih.gov)
  • i.e., the genomic karyotypes of different commercial isolates of the same strain looked very similar, although an exception to this was seen among the Montrachet isolates. (nih.gov)
  • What is karyotype coding and why is genomic topology important for cancer and evolution? (frontiersin.org)
  • The genes define the "Parts Inheritance," while the karyotype and genomic topology (the physical relationship of genes within a three-dimensional nucleus) plus the gene content defines "System Inheritance. (frontiersin.org)
  • 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)
  • Paste or tape the chromosome pairs together on the karyotype sheet, starting with the first chromosome pair and ending with two X's or the X and Y. (accessexcellence.org)
  • In a broader sense the term karyotype is also used in reference to a particular individual inferring that all the (somatic) cells have the same karyotype. (springer.com)
  • Complex karyotype acute myeloid leukemia (CK-AML) has a dismal outcome with current treatments, underscoring the need for new therapies. (nature.com)
  • Fig. 2: Efficacy of Ven, PegC and Ven-PegC combination in an orthotopic patient-derived xenograft (PDX) model of relapsed AML with complex karyotype. (nature.com)
  • Relapse and survival after transplantation for complex karyotype acute myeloid leukemia: a report from the Acute Leukemia Working Party of the European Society for Blood and Marrow Transplantation and the University of Texas MD Anderson Cancer Center. (nature.com)
  • When detected in association with complex karyotype, the 5q- aberration is associated with adverse prognostic outcome. (haematologica.org)
  • 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. (haematologica.org)
  • The end product does not yet have a consistent name, and has been called virtual karyotyping, digital karyotyping, molecular allelokaryotyping, and molecular karyotyping. (wikipedia.org)
  • Central dogma of molecular Duplication Transcription Translation Human Karyotype Genetic Most genetic disorders are quite rare and affect one person in every several thousands or millions. (prezi.com)
  • A Two-Month-Old Child with Vascular Ectasia: A Case Report Diagnosed by Molecular Karyotyping. (nih.gov)
  • Here, we report a 2-month-old infant with vascular ectasia in the proximal esophagus and diagnosed by molecular karyotyping. (nih.gov)
  • Creative Bioarray offers a wide range of Karyotyping Services (Traditional Karyotyping-G Banded, M-FISH, Molecular Karyotyping, etc) to meet your different needs. (creative-bioarray.com)
  • Novel SNP-chip high resolution molecular allelo-karyotyping analysis allows us to examine global DNA copy number changes and allelic loss to evaluate allele-specific gene dosage in cancer cells. (aacrjournals.org)
  • Karyotyping patients using arrays carrying either clones or oligonucleotides enables the detection of molecular aberrations at unprecedented resolution. (lorentzcenter.nl)
  • The purpose of this second workshop on molecular karyotyping is to assess progress in this fast moving field in the clinical genetic centres in The Netherlands and Flanders, to compare performance of the various array platforms in use, and to discuss collaboration in the analysis and interpretation of array data. (lorentzcenter.nl)
  • 2017. https://www.tabers.com/tabersonline/view/Tabers-Dictionary/740085/all/karyotype. (tabers.com)
  • In both karyotyping and microarray analysis, fetal cells were obtained via an invasive procedure such as amniocentesis (fetal cells taken from the amniotic fluid), or chorionic villus sampling (fetal cells taken from the placenta). (medindia.net)
  • Outcome results included fetal karyotype diagnosed by amniocentesis, or newborn physical examination by a pediatrician. (biomedsearch.com)
  • Indeed, some people insist on doing karyotypes of their unborn babies early in their pregnancies to test for such disorders, the usual method of obtaining cells in amniocentesis. (wikibooks.org)
  • If you know the author of Using Karyotypes to Predict Genetic Disorders , please help us out by filling out the form below and clicking Send. (merlot.org)
  • OBJECTIVE: To evaluate the appropriateness of fetal karyotyping after prenatal sonographic diagnosis of isolated unilateral or bilateral clubfoot. (biomedsearch.com)
  • however, no cases of aneuploidy were found by fetal karyotype evaluation or newborn physical examination. (biomedsearch.com)
  • CONCLUSION: After prenatal diagnosis of isolated unilateral or bilateral clubfoot, there appeared to be no indication to offer karyotyping, provided that a detailed sonographic fetal anatomy survey was normal and there were no additional indications for invasive prenatal diagnoses. (biomedsearch.com)
  • Fetal karyotyping by chorionic villus sampling after the first trimester. (biomedsearch.com)
  • Pregnant women, referred because of an increased risk of fetal Down syndrome, who underwent an invasive prenatal procedure were offered a choice between karyotyping and rapid targeted testing. (hindawi.com)
  • Karyotype instability in Cryptococcus neoformans infection. (asm.org)
  • We have developed a method, called digital karyotyping, that provides quantitative analysis of DNA copy number at high resolution. (pnas.org)
  • Karyotype analysis of Siberian larch (Larix sibirica Ledb. (openlibrary.org)
  • To increase understanding of the use of karyotypes and their analysis. (accessexcellence.org)
  • Cell lines provide a source of tumor karyotypes that permits much more detailed analysis than primary material, but there has been doubt about how well they represent primary tumors. (pnas.org)
  • The chromosome numbers of S. tripartitum , S. tenuispinum , and S. vaillantii are reported for the first time, and the karyotype analysis of L. rantonnei is the first one for the genus. (ingentaconnect.com)
  • Karyotype analysis of bulinid snails. (who.int)
  • The miniaturization of the dropping volume from 10 µL to 0.5 µL has enabled high throughput capabilities in the area of FISH and karyotype analysis. (prweb.com)
  • The aim of this intracellular flow karyotyping project is improving the technology to extend the method to the analysis of karyotype aberrations from individual cells. (europa.eu)
  • Creative Bioarray can provide you with the best research support in karyotyping analysis field. (creative-bioarray.com)
  • In the course of this year, 2008, all the centres will either be switching their routine diagnosis to array analysis, or perform conventional karyotyping in parallel with array analysis of selected patients. (lorentzcenter.nl)
  • Karyotyping is one of the many techniques that help study the human genes for several genetic diseases. (indiaparenting.com)
  • So if diseases are caused by small mutations they cannot be predicted Individual DNA strands or genes The number of genes in any given area of a chromosome How is blood karyotyping performed? (indiaparenting.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)
  • Electrophoretic karyotypes of Torulopsis glabrata. (asm.org)
  • The electrophoretic karyotypes of 32 clinical and 3 environmental Cryptococcus neoformans isolates from New York City were studied by contour clamped homogeneous electrophoresis. (asm.org)
  • There was extensive variation among the electrophoretic karyotypes of isolates from different patients. (asm.org)
  • This hypothesis was tested by infecting mice, recovering isolates from mouse organs, and comparing the electrophoretic karyotypes before and after passage. (asm.org)
  • Our results indicate (i) extensive karyotype variation among isolates from a small geographic regions, (ii) a high frequency of electrophoretic karyotype differences among sequential isolates from individual patients, and (iii) the occurrence of electrophoretic karyotype changes during experimental infection of mice. (asm.org)
  • When doctors study a human karyotype they look for some significant features. (indiaparenting.com)
  • Human karyotype Genetic diseases composed of? (prezi.com)
  • In this sense the expression "human karyotype" is used here. (springer.com)
  • Schwarzacher H.G. (1976) The Human Karyotype. (springer.com)
  • This work involved conventional karyotype determination and the physical location of different heterochromatin families, as well as the 45S and 5S rDNA sites. (scielo.br)
  • Further, arrays used for karyotyping may use non-polymorphic probes, polymorphic probes (i.e. (wikipedia.org)
  • TTR3 was included in a cocktail with other previously characterised probes, producing better-resolved karyotypes for the three diploids. (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)
  • Chemotherapy may cause chromosome breaks that affect normal karyotyping results. (medlineplus.gov)
  • Sturge-Weber syndrome with normal karyotype. (bmj.com)
  • Keep in mind also that a karyotype including '-7' doesn't mean there is only one copy of 7, it means there is only one NORMAL 7 present. (protocol-online.org)
  • This paper provides a simple and convenient method to isolate aneuploid cells with complex karyotypes that cease to divide. (jove.com)
  • Cytogenetic analyses in Panstrongylus were initiated in 1950 with the karyotype description of P. megistus (Schreiber and Pellegrino, 1950). (thefreelibrary.com)
  • women in the invasive prenatal diagnosis group underwent karyotyping performed at a cytogenetic laboratory. (clinicaladvisor.com)
  • Place this chromosome in the partially completed karyotype below by clicking on its homologous chromosome. (arizona.edu)
  • 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)
  • Other terms used to describe the arrays used for karyotyping include SOMA (SNP oligonucleotide microarrays) and CMA (chromosome microarray). (wikipedia.org)
  • The results, one simple line in karyotype notation, were clear. (dictionary.com)
  • The results of karyotypes are written in a special notation that, while it may look confusing at first, is actually easy to learn and understand. (ehow.co.uk)
  • This type of counselor is trained to help you understand what karyotype test results mean for you, such as your risk for having a child with an inherited (genetic) condition like Down syndrome . (adventisthealthcare.com)
  • Results of a karyotype test are usually available within 1 to 2 weeks. (adventisthealthcare.com)
  • If you are being treated for cancer, the results of a karyotype test may not be accurate. (adventisthealthcare.com)
  • If the results of karyotype are abnormal, other family members may be advised to have the test. (adventisthealthcare.com)
  • OBJECTIVE: To evaluate chorionic villus sampling (CVS) as a technique for karyotyping after the first trimester by examining the incidence of result failure, confined placental mosaicism, and false positive or negative results at different gestational ages. (biomedsearch.com)
  • I've just received the Karyotyping results on the baby from my last miscarriage and was wondering if anyone has had similar. (mumsnet.com)
  • Results: A total of 202 singletons and three sets of twins were born to 115 women with a TS karyotype that was unknown in 52% at time of pregnancy. (lu.se)
  • Virtual karyotyping can also be done on fresh or formalin-fixed paraffin-embedded tumors. (wikipedia.org)
  • Intriguingly, most RER+ tumors have a stable near-diploid karyotype, whereas RER− tumors usually have stable microsatellites but unstable chromosome numbers and structure. (pnas.org)
  • Epithelial tumors commonly show complex and variable karyotypes that obscure the identification of general patterns of the karyotypic evolution. (nih.gov)
  • 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)
  • Historically, karyotypes have been obtained by staining cells after they have been chemically arrested during cell division. (wikipedia.org)
  • Mapping of the KARYOTYPE of a cell. (harvard.edu)
  • 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)
  • We applied these karyotyping tools to wild soybean, G. soja Sieb. (genetics.org)
  • We now discuss how the karyotype evolved with the diversification of the triatomines. (ajtmh.org)
  • Down's syndrome is easily identified via a karyotype by the obvious extra chromosome present in the image. (wikibooks.org)
  • Quiz questions assess your knowledge of karyograms and information about a person's karyotype. (study.com)
  • At least three karyotype patterns could be distinguished. (pnas.org)
  • The B. napus karyotype has been constructed, for the first time, on the basis of both C 0 t -1 DNA FISH banding patterns and chromosome morphology. (ingentaconnect.com)
  • Sequential C. neoformans isolates from patients with chronic or relapsing infection had very similar karyotypes. (asm.org)