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
Studies have shown that a majority of pregnancies that end in miscarriage are due to a chromosome abnormality usually involving a duplicated or missing chromosome. Often this happens by chance and is not likely to occur in future pregnancies. For many women, a miscarriage can be a traumatic experience and can cause feelings of loss and grief. The option of genetic testing, such as karyotyping, may offer an explanation for the miscarriage and may help some women find closure in their loss. However, no literature exists on a womens experience with genetic testing following a miscarriage. This assumption that the knowledge that can be gained from karyotyping may be a positive experience for a woman following a miscarriage should be studied and the results published. This study will address whether routine karyotyping should be offered following a miscarriage for the purpose of benefiting the patients experience. ...
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.
By Justin Petrone Chromosomal microarrays could eventually become the standard of care for prenatal genetic testing in the US if implemented correctly, according to the results of a recent study.
We offer Cytogenetic Services, Karyotyping, Stem Cell Services, Stem Cell Characterization, Karyotyping Lab & other services; visit our website now!
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.
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.
Mice heterozygous for Robertsonian centric fusion chromosomal translocations frequently produce aneuploid sperm. In this study RBJ/Dn x C57BL/6J F1 males, heterozygous for four Robertsonian translocations (2N=36), were analyzed to determine effects on germ cells of error during meiosis. Analysis of …
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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For services like Cell Line Services, Karyotyping Service, Stem Cell Characterization, Mouse Karyotyping & Cell Line Characterization. Call us now.
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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. ...
Karyotypes are arranged with the short arm of the chromosome on top, and the long arm on the bottom. Some karyotypes call the ... Karyotyping is the process by which a karyotype is prepared from photographs of chromosomes, in order to determine the ... Media related to Karyotypes at Wikimedia Commons Making a karyotype, an online activity from the University of Utah's Genetic ... Karyotyping activity with case histories from the University of Arizona's Biology Project. Printable karyotype project from ...
... 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 ...
The banded karyotypes of 850 mammalian species were summarized in the Atlas of Mammalian Chromosomes. Karyotype variability in ... g. Reconstructed karyotype of the ancestral Sciuridae (Rodentia) genome, based on painting data (Li et al., 2004). h. Idiogram ... a. Reconstructed karyotype of the ancestral Eutherian genome. Each chromosome is assigned a specific color. These colors are ... Yang, F.; Carter, N. P.; Shi, L.; Ferguson-Smith, M. A. (1995). "A comparative study of karyotypes of muntjacs by chromosome ...
"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. Cell- ...
XXX karyotype. Differential diagnosis remains indicated when the phenotype is particularly severe for what a 47,XXX karyotype ... The most common karyotype in trisomy X is 47,XXX, where all cells have an additional copy of the X chromosome. Mosaicism, where ... Karyotype' as a term has multiple meanings, all of which are used here. It may refer to a person's chromosome complement, to ... Mosaic karyotypes with both 45,X0 and 47,XXX cells are considered Turner syndrome rather than trisomy X, but the presence of 47 ...
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 ...
were unavailable for karyotyping. "Camera Marugo Cohen syndrome - About the Disease - Genetic and Rare Diseases Information ...
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 ...
Karyotype. 2021 Pavel Otdelnov. Relocated. 2021 Pavel Otdelnov. Repository. 2021 "Биография Павла Отдельнова на сайте онлайн- ...
See karyotype). Recherches sur la composition et la signification de l'œuf 1868 Full text available from Archive.org PDF La ...
Males with Klinefelter syndrome usually have a karyotype of 47,XXY as a result of having two or more X chromosomes. Affected ... Peripheral blood is collected for karyotyping. This helps classify the patient in one of the three main categories of DSD: ... the Prader scale should be used to assess the extent of the virilisation if the karyotyping results are not out yet. In males, ...
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 ...
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. doi:10.1093/clinchem/21.9. ...
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 ...
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, ...
The preparation and study of karyotypes is part of cytogenetics. Animals Plants Other Eukaryotes Karyotype of a human being. It ... 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 ...
Spectral karyotyping is an image of colored chromosomes. Spectral karyotyping involves FISH using multiple forms of many types ... This type of karyotyping is used specifically when seeking out chromosome arrangements. FISH can be used to study the evolution ... Virtual karyotyping is another cost-effective, clinically available alternative to FISH panels using thousands to millions of ... FISH on sperm cells is indicated for men with an abnormal somatic or meiotic karyotype as well as those with oligozoospermia, ...
49,XXXXY 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 absent, males and females both possess two X chromosomes per set as in the case ...
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. S2CID 85117341. Retrieved 12 September 2015 ... 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 ...
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 ...
Claugher, D. (‎1971)‎. Karyotype analysis of bulinid snails.. Bulletin of the World Health Organization, 45 (‎6)‎, 855 - 858. ...
Claugher, D. (‎1971)‎. Karyotype analysis of bulinid snails.. Bulletin of the World Health Organization, 45 (‎6)‎, 855 - 858. ...
... indicating ongoing karyotype remodelling. Focal amplifications that affected chromosomes 1q21 (which encompasses BCL9,  ... Watkins, T.B.K., Lim, E.L., Petkovic, M. et al. Pervasive chromosomal instability and karyotype order in tumour evolution. ... 5 Markov chain modelling of karyotype evolution.. a, List of parameters used for Markov chain modelling. b, Diagrams of ... h-j, Robustness analysis of the Markov chain model of karyotype evolution. Graphs show the relative performance of the three ...
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Karyotyping - illustration Karyotyping is a test used to identify chromosome abnormalities as the cause of malformation or ... Karyotyping - illustration Karyotyping is a test used to identify chromosome abnormalities as the cause of malformation or ... 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. ...
Triple-X karyotype. This female has an extra X chromosome. ... Triple-X chromosome aberration karyotype. *Wessex Reg. Genetics ... Triple-X chromosome aberration karyotype. .. Wessex Reg. Genetics Centre.. Attribution 4.0 International (CC BY 4.0) ...
Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays ... Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays ... Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays ...
A 3-month old baby born with atypical genitalia has an XY karyotype. The baby undergoes diagnostic laparoscopy. The baby is ... The majority of patients with ovotestes syndrome have an XY karyotype but can also have an XX karyotype. The key to suspecting ... Patients with XO karyotype (Turners syndrome) would have bilateral streak gonads (such as on the left, Exhibit 3) without the ... A 3-month old baby born with atypical genitalia has an XY karyotype. The baby undergoes diagnostic laparoscopy. The baby is ...
Here we studied the WMP2 line using spectral karyotyping (SKY) combined with new established mouse specific multicolor banding ... Molecular cytogenetic characterization of the mouse cell line WMP2 by spectral karyotyping and multicolor banding applying ...
Author(s): Putnam, Nicholas H.
http://slkjfdf.net/ - Eozidue Ozixof jfj.tywm.folk.sk.pgo.ol http://slkjfdf.net/. http://slkjfdf.net/ - Eozidue Ozixof jfj.tywm.folk.sk.pgo.ol http://slkjfdf.net/. Ak sa vám článok páčil, môžte ho poslať do vybrali.sme.sk alebo si prečítajte ďalšie články tohto autora.. Poslať autorovi správu. ...
A single female karyotyped from the vicinity of Riverside, California, was unmistakably triploid, showing 3N = 45 with 18 ... Most individuals throughout the range have a diploid karyotype of 2N = 30 consisting of 12 biarmed macrochromosomes and 18 ... 1986) "Two aberrant karyotypes in the sagebrush lizard (Sceloporus graciosus): triploidy and a supernumerary oddity," Great ... Two aberrant karyotypes in the sagebrush lizard (Sceloporus graciosus): triploidy and a "supernumerary" oddity ...
Comparing Apples and Oranges in Normal Karyotype Acute Myeloid Leukemia REPLY Fitzgibbon J., Gale R., Hills R., Virappane P., ...
Book Karyotyping Test in Mumbai using the MFine app. Get up to 50% Off with at-home sample collection and reports from NABL ... Karyotyping Test in Mumbai. Avail Karyotyping test in Mumbai through MFine. You can book your Karyotyping test from the reputed ... Karyotyping test at home - how does it work?. The Karyotyping test is just like any other blood test. When you book your tests ... Procedure for Karyotyping test. Taking a sample of your cells is the initial step in karyotyping. The cells in the sample can ...
Genome comparisons have made possible the reconstruction of the eutherian ancestral karyotype but also have the potential to ... comparisons between different vertebrates provide new insights into breakage and fusion events during mammalian karyotype ...
In the present study, fibroblasts from patients with DS of various karyotypes were reprogrammed into iPSCs via the ... is caused by trisomy of some or all of human chromosome 21 and includes three basic karyotypes: trisomy 21, translocation, and ... Karyotype analysis and short tandem repeat analysis. Karyotype analysis was conducted by using standard protocols for the ... Karyotype analysis confirms that each iPSC line generated from the parental fibroblasts maintained the normal euploid karyotype ...
Karyotyping is a cytogenetic test which evaluates abnormalities in structure as well as number of chromosomes that contain the ...
Spontaneous estrogenization occurs more commonly in women with mosaic karyotypes and those karyotypes with an abnormal second X ...
METHODS: Karyotype analysis was performed by trypsin-Giemsa banding and naked eye karyotyping for 33 bilateral, 25 unilateral ... Karyotyping in retinoblastoma--a statistical approach.. Authors: Joseph, Biju. Paul, Pradeep G. Elamparithi, Anuradha. Roy, ... PURPOSE: Karyotype analysis in hereditary retinoblastoma is considered to be of marginal value in risk prediction due to ... Joseph B, Paul PG, Elamparithi A, Roy J, Vidhya A, Shanmugam MP, Kumaramanickavel G. Karyotyping in retinoblastoma--a ...
Examples of karyotyping. Karyotyping results / By drtusharchauhan A process to know and study chromosomes known as karyotyping ... Karyotyping results / By drtusharchauhan Prenatal studies highly rely on genetic techniques like karyotyping, recent trends ... Karyotyping is a popular cytogenetic technique, practice commonly for prenatal or fetal genetic studies which are powerful ... What are the common Errors in Karyotyping Results?. ... What are the common Errors in Karyotyping Results? Read More » ...
This is a Karyotype.. Usually a lab worker who wants to karyotype a persons blood, will look at some white blood cells, which ... Ill go over Karyotyping in this post and tackle the other methods later. Karyotyping is basically looking at the chromosomes ... Reading Your Blueprint: Karyotyping. August 22, 2011. W. Brad Robinson Leave a comment ... Karyotype of a normal male. From biology.iupui.edu. The word "aneuploid" comes from four Greek words mashed together: "an-" for ...
Biology Karyotype Worksheet Answers is really a page of report comprising projects or issues which can be meant to be achieved ... Back To Biology Karyotype Worksheet Answers. Related posts of "Biology Karyotype Worksheet Answers". Solving Systems Of ... Karyotyping Activity. By Adam A. Kline , Published 07/09/2019 , Full size is 791 × 1024 pixels ... Biology Karyotype Worksheet Answers is really a page of report comprising projects or issues which can be meant to be achieved ...
Tag: karyotype. Which Of The Following Statements Is True About Karyotype. Posted on April 5, 2021. April 5, 2021. by admin ...
Karyotype > Diploid: 44 & Karyotype : 14M+2A or 16M or 24A or 2M+6SM+16ST+14A & Notes : Lorite and Palomeque 2010 states the ... Karyotype: (Click arrow to add another value) None · 20M · 12M · 44A · 14M · 24M · 18M · 12M+6SM+4A · 18M+2SM+2ST · 20M+2SM · ...
... Zoological Research, 1982, 3(4 ... Studies on the Karyotypes of Cosmolaelaps gurabensis and Ornithonyssus bacoti (Acari:Gamasina). Zoological Research, 1982, 3(4 ... Studies on the Karyotypes of Cosmolaelaps gurabensis and Ornithonyssus bacoti (Acari:Gamasina). Zoological Research, 1982, 3(4 ... Studies on the Karyotypes of Cosmolaelaps gurabensis and Ornithonyssus bacoti (Acari:Gamasina). Zoological Research, 1982, 3(4 ...
What is a karyotype? A karyotype is a profile or picture of a persons chromosomes. Karyotyping, also known as chromosome ... Why is a karyotype important? Karyotype analysis can identify chromosome changes which increase an individual or couples ... How will I find out if my karyotype is abnormal? If your karyotype report identifies a chromosome rearrangement or an ... At No1 Fertility, a karyotype analysis is part of your initial work up as a patient. Karyotype analysis requires a blood test ...
KÁRION-20 and KÁRION-50 are our avant-garde solutions for karyotyping at 20 or 50 plates respectively. High definition, 400- ... Fast and reliable high-resolution karyotyping for the detection of chomosomal imbalances, aneuploidies and mosaicisms. ...

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