AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesDisciplines and OccupationsAnthropology, Education, Sociology and Social Phenomena
Sex Chromosome AberrationsTrisomyChromosome AberrationsSex ChromosomesChromosomesKaryotypingChromosome MappingX ChromosomeIn Situ Hybridization, FluorescenceChromosome BandingChromosome DisordersAneuploidyY ChromosomeDown SyndromeSister Chromatid ExchangeChromosomes, Human, Pair 18Chromosomes, HumanChromosomes, Human, Pair 13Sex Chromosome DisordersChromosomes, Human, Pair 21MosaicismChromosome PaintingChromosomes, Human, Pair 1Chromosomes, Human, XTranslocation, GeneticChromosomes, Human, Pair 7Chromosomes, Human, YMicronucleus TestsCytogeneticsChromosomes, Human, Pair 11Cytogenetic AnalysisSex Determination ProcessesMutagenicity TestsChromosomes, Human, 16-18Chromosome DeletionChromosome PairingChromosomes, Human, 6-12 and XChromosomes, PlantSileneMutagensX Chromosome InactivationChromosome SegregationNuclear WarfareCorneal Wavefront AberrationLymphocytesGenes, Y-LinkedChromosomes, Human, Pair 17AmericiumChromosomes, Human, Pair 8MetaphaseChromosomes, Human, Pair 4MeiosisChromosomes, Human, Pair 9Chromosomes, Artificial, BacterialChromosomes, Human, 13-15Genes, X-LinkedChromosomes, Human, Pair 6Chromosome BreakageChromosomes, Human, 21-22 and YSex ChromatinChromosomes, Bacterial
AbnormalitiesPair of sexSyndromeSomaticCytogenetics2023KaryotypeIndividual'sDisordersGeneAneuploidiesPartial trisomyGenes and chromosomesTranslocationsHuman chromosomesHomologous chromosomesTranslocationStructuralMetaphase chromosomeAneuploidyMosaicismDeletionsOrganismMeioticPhenotypicDeletionHeredityFetalMalesDiploid cellLocusMutationsTheory of inheritanceAbnormalCopiesRearrangementsChromatinMitosisDistantlyEuchromatinAlterationsGenomeSpeciesAutosomesTelomeresDeterminationHaploidCancerAnaphase2021Arranged in pairs
Abnormalities10
  • Trisomy of sex chromosomes is compatible with life, but will cause phenotypic abnormalities. (mindmeister.com)
  • Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated with abnormalities in many parts of the body. (ps3magic.de)
  • Chromosome disorders can be divided into two categories: abnormalities in chromosome number and chromosome structural rearrangements. (opentextbc.ca)
  • The isolation and microscopic observation of chromosomes forms the basis of cytogenetics and is the primary method by which clinicians detect chromosomal abnormalities in humans. (opentextbc.ca)
  • At its most basic, the karyogram may reveal genetic abnormalities in which an individual has too many or too few chromosomes per cell. (opentextbc.ca)
  • Of all the chromosomal disorders, abnormalities in chromosome number are the most easily identifiable from a karyogram. (opentextbc.ca)
  • Knowledge on the prevalence of sex chromosome abnormalities (SCAs) is limited, and delayed diagnosis or non-diagnosis of SCAs are a continuous concern. (biomedcentral.com)
  • The genetic controversy about LSD started in 1967 when Cohen, Marinello and Back (22) published a paper suggesting that LSD should be added to the list of substances capable of causing abnormalities in the chromosomes. (druglibrary.net)
  • Changes in the structure or quantity of chromosomes , which are strands of condensed genetic material, are known as chromosomal aberrations or abnormalities. (schleiden-eifel.de)
  • However, within populations there can be found abnormalities involving the structure or number of chromosomes . (schleiden-eifel.de)
Pair of sex1
Syndrome15
  • Y-chromosome microdeletion syndrome occurs in approximately 7,5% of males with confirmed infertility. (cloudhealthlabs.com)
  • Trisomy 21 → gain of an extra chromosome 21, results in Down's syndrome. (mindmeister.com)
  • Down syndrome), or smaller, sub-chromosomal aberrations (e.g. (identifai-genetics.com)
  • The most notable example is NIPT for trisomy 21 (where the genome of the fetus contains an extra copy of chromosome 21), which causes Down syndrome, a test that has shown high sensitivity and specificity not only in high-risk populations like advanced maternal age pregnancies, but also in the general population [7]. (identifai-genetics.com)
  • Trisomy 21 About 95 of people with Down syndrome have Trisomy 21. (ps3magic.de)
  • Examples of this are Down syndrome , which is identified by a third copy of chromosome 21 , and Turner syndrome, which is characterized by the presence of only one X chromosome in women instead of two. (opentextbc.ca)
  • For instance, Jacobsen syndrome, which involves distinctive facial features as well as heart and bleeding defects, is identified by a deletion on chromosome 11. (opentextbc.ca)
  • Try pairing the chromosomes yourself (as has been done for the Down Syndrome karyotype below). (mymom.info)
  • Down Syndrome results when three, rather than the normal two, copies of chromosome 21 are present in each cell. (mymom.info)
  • A 46,XY sex reversal syndrome is characterized by discordant genetic and phenotypic sex, leading to normal external female genitalia, undeveloped gonads and presence of Müllerian structures in an otherwise 46,XY individual. (biomedcentral.com)
  • The clinical presentation of the subject that mimics Turner syndrome highlights the importance of cytogenetic analysis to detect the possibility of ring chromosome 9. (biomedcentral.com)
  • All other case series and case reports describe dermatoglyphics in various kidney disease such as acro-renal-ocular syndrome, potter syndrome, kabuki makeup syndrome, neurofaciodigitorenal syndrome, syndactyly type V, ring chromosome 13 syndrome, trisomy 13 syndrome and sirenomelia. (springeropen.com)
  • Examples of trisomies include Down syndrome (trisomy 21), and Klinefelter syndrome (XXY). (xcode.in)
  • Such disorders include DiGeorge syndrome (aka 22q11.2 deletion syndrome) and Cri du Chat syndrome (5p- where part of chromosome 5 is missing). (xcode.in)
  • Down Syndrome (DS) is the most common chromosomal aberration resulting from trisomy of the chromosome 21. (bvsalud.org)
Somatic6
  • The review provides a brief account of the structure of somatic and meiotic chromosomes, stressing the high conservation of structure in plants and animals, with emphasis on aspects that require further research. (biomedcentral.com)
  • These studies reaffirmed that chromosome structure and behavior in somatic and germ cell divisions were common to all plants and animals. (biomedcentral.com)
  • Germ cells only carry one-half of a somatic cell's chromosomes . (amboss.com)
  • Chromosome and Karyotype Review Somatic cells always have an even number of chromosomes because they exist in pairs (2n or diploid). (mymom.info)
  • A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species. (lookformedical.com)
  • It is a highly heterogeneous group of hematological disorders that results from the acquisition of chromosomal aberrations and somatic mutations. (waocp.com)
Cytogenetics3
20231
Karyotype12
  • A karyotype is the number and appearance of chromosomes, including their length, banding pattern, and centromere position. (opentextbc.ca)
  • To obtain a view of an individual's karyotype, cytologists photograph the chromosomes and then cut and paste each chromosome into a chart, or karyogram ( Figure 7.7 ). (opentextbc.ca)
  • To obtain the classic depiction of the karyotype in which homologous pairs of chromosomes are aligned in numerical order from longest to shortest, the geneticist obtains a digital image, identifies each chromosome, and manually arranges the chromosomes into this pattern. (opentextbc.ca)
  • Finally, the karyotype can pinpoint translocations, which occur when a segment of genetic material breaks from one chromosome and reattaches to another chromosome or to a different part of the same chromosome. (opentextbc.ca)
  • A karyotype is a display of the chromosomes of a single cell. (mymom.info)
  • These are the chromosomes of a normal karyotype. (mymom.info)
  • Some of the worksheets displayed are Lesson 2 analyzing chromosomes, Biology 1 work i selected answers, Appendix a human karyotyping work, 14, Period chromosome and karyotype review, Ccut n paste karyotyping activityut n paste karyotyping, Human karyotyping lab, Karyotyping activity. (mymom.info)
  • You will be arranging chromosomes into a completed karyotype, and interpreting your findings just as if you were working in a genetic analysis program at a hospital or clinic. (mymom.info)
  • A karyotype is the number and appearance of chromosomes in the nucleus of a eukaryote cell. (mymom.info)
  • Chromosome and Karyotype Review Chromosome Numbers: n is used to represent the number of different chromosomes. (mymom.info)
  • Karyotype: The characterization of the chromosomal complement of an individual's cell, including number, form, and size of the chromosomes. (mymom.info)
  • prognosis and therapeutic response that make karyotype an indispensable examination in evaluating this cancer [15-18]. (waocp.com)
Individual's1
Disorders6
  • Another chromosome-related clinical application is fetal sex determination, which also enables to rule out X-linked recessive disorders in case of a female fetus. (identifai-genetics.com)
  • Inherited disorders can arise when chromosomes behave abnormally during meiosis. (opentextbc.ca)
  • Because even small segments of chromosomes can span many genes, chromosomal disorders are characteristically dramatic and often fatal. (opentextbc.ca)
  • Disorders of chromosome number include the duplication or loss of entire chromosomes, as well as changes in the number of complete sets of chromosomes. (opentextbc.ca)
  • Chromosome 9pter aberrations, such as ring chromosome have been reported to cause 46,XY disorders of sex development (DSD), due to involvement of DMRT1 gene located at the 9p24.3 region. (biomedcentral.com)
  • Chromosome aberrations may result in CHROMOSOME DISORDERS. (lookformedical.com)
Gene12
  • All homologous chromosome pairs contain two variant forms of the same gene , called " alleles ," which are passed down from parent to offspring. (amboss.com)
  • For example, the cytogenetic map location of the CFTR gene is 7q31.2, which indicates it is on chromosome 7, q arm, band 3, sub-band 1, and sub-sub-band 2. (mymom.info)
  • The HER2 amplification probe consists of a 347kb probe labelled in red, spanning the HER2 (ERBB2) gene and neighbouring regions, and a green probe for the chromosome 17 centromere. (ogt.com)
  • Sex reversal due to haploinsufficiency of DMRT1 gene in ring chromosome 9 structures is exceedingly rare with only a handful of cases ever reported. (biomedcentral.com)
  • This finding further highlights the importance of DMRT1 gene in sex determination and differentiation in males. (biomedcentral.com)
  • Sex determination and development in males occurs during the embryonic period, and is initiated by the expression of SRY gene located on the short arm of the Y chromosome. (biomedcentral.com)
  • This revealed no aberration of the chromosomal region containing the HMGA2 gene in the cohort, and HMGA2 expression was surprisingly only detectable in a single case. (annexpublishers.co)
  • They described two patients with PNH with an acquired rearrangement of chromosome 12 affecting the HMGA2 gene, which encodes a chromatin remodeling protein, in the PIGA mutant cells [ 12 ]. (annexpublishers.co)
  • Cancer is a disease of the chromosomes, and chromosomal instability in cancer disrupts gene function by either inactivating tumor suppressor genes or activating growth-promoting oncogenes. (nshealth.ca)
  • The chromosomal basis for these aberrations is either translocations, which change the integrity of genes, or abnormal numbers of chromosomes, a condition referred to as aneuploidy, which results in abnormal gene expression levels. (nshealth.ca)
  • As a result, important data about its genome organization and evolution were obtained, such as the lesser gene density of the large metacentric pair compared with the other metacentric chromosomes, which supports the theory of a sex proto-chromosome pair. (metasystems-international.com)
  • We measured the meiotic recombination rate in two regions of chromosome 5, containing or not an NLR gene cluster. (metasystems-international.com)
Aneuploidies1
  • The FAST FISH Prenatal kit allows detection of trisomies 13, 18 and 21 (Patau, Edwards and Down syndromes) and sex chromosome aneuploidies utilising a 2 hour hybridisation protocol. (ogt.com)
Partial trisomy1
Genes and chromosomes1
  • In 1944 it was realized that genetic transformation in bacteria was due to DNA and not protein and that DNA was the molecule responsible for heredity in genes and chromosomes [ 8 ]. (biomedcentral.com)
Translocations2
  • HMGA2 is located in an area on chromosome 12q13 frequently involved in translocations and amplifications in benign, mesenchymal tumors. (annexpublishers.co)
  • DNA Repair and Chromosomal Translocations -- CINcere modelling: What have mouse models for chromosome instability taught us? (nshealth.ca)
Human chromosomes1
Homologous chromosomes5
  • Each human cell contains 23 pairs of homologous chromosomes (corresponding in structure and genetic information, i.e., 23 chromosomes are inherited from each parent). (amboss.com)
  • The two homologous chromosomes contain identical alleles at a given locus . (amboss.com)
  • The two homologous chromosomes contain different alleles at a given locus . (amboss.com)
  • They are caused by nondisjunction , which occurs when pairs of homologous chromosomes or sister chromatids fail to separate during meiosis. (opentextbc.ca)
  • If homologous chromosomes fail to separate during meiosis I, the result is two gametes that lack that chromosome and two gametes with two copies of the chromosome. (opentextbc.ca)
Translocation1
  • SS has a characteristic balanced translocation between chromosomes × and 18, t(X;18) (p11.2;q11.2), represented in more than 95% of the cases. (biomedcentral.com)
Structural8
  • Structural mutations can be at the level of a complete chromosome (e.g. (identifai-genetics.com)
  • Structural or numerical chromosomal aberrations present in these clones of cells have been linked with this entity. (medscape.com)
  • Almost every chromosome is affected by numeric or structural aberrations. (neurotransmitter.net)
  • A number of scientific papers have been published indicating that LSD might cause structural changes in the chromosomes, genetic mutations, disturbances of embryonic development, and malignant degeneration of cells. (druglibrary.net)
  • 22) * After my arrival in the United States, I participated in a major study concentrating on structural changes of the chromosomes in the white blood cells following LSD administration. (druglibrary.net)
  • The first group includes papers describing structural changes of the chromosomes produced by LSD in vitro , ** in these experiments various concentrations of LSD are added to cultures of cells from human, animal, or plant tissues in a test-tube. (druglibrary.net)
  • The possibility of inducing structural changes in the chromosomes by exogenous agents such as radiation, viruses, and a variety of chemicals, has been a subject of great scientific interest for a long time. (druglibrary.net)
  • Such structural or numerical chromosomal aberrations are specific for distinct tumor entities. (nshealth.ca)
Metaphase chromosome2
  • During metaphase the X-shaped structure is called a metaphase chromosome, which is highly condensed and thus easiest to distinguish and study. (wikipedia.org)
  • We now recognize that, following DNA replication, the metaphase chromosome consists of two chromatids held together by a centromere and by cohesin. (biomedcentral.com)
Aneuploidy1
  • examples include aneuploidy (atypical chromosome number), deletion (loss of part of a chromosome), duplications (extra copies of a region of a chromosome), inversion (when part of a chromosome breaks off and reattaches in reverse. (schleiden-eifel.de)
Mosaicism2
Deletions1
  • Chromosome 9 aberrations involving the terminal end of p arm, such as terminal p deletions or ring chromosomes have been reported to cause 46,XY DSD. (biomedcentral.com)
Organism4
  • A chromosome is a long DNA molecule with part or all of the genetic material of an organism. (wikipedia.org)
  • The term is also used of the complete set of chromosomes in a species, or an individual organism.It describes the number of chromosomes, and what they look like under a light microscope.Attention is paid to their length, the position of the centromeres, any differences between the sex chromosomes, and. (mymom.info)
  • what do you call an organism with four sets of chromosomes . (schleiden-eifel.de)
  • In an organism, any visible abnormality in chromosome number or structure from the diploid set is known as chromosomal aberration . (schleiden-eifel.de)
Meiotic1
  • Mediates attachment of the chromosome to the meiotic or mitotic spindle . (amboss.com)
Phenotypic2
  • Therefore, we conducted a case study of a 46,XY female to better understand the genotypic and phenotypic characteristics related to 9p24.3 aberration and DMRT1 loss. (biomedcentral.com)
  • This trisomy is present in 95% of the phenotypic expression of the DS patients. (bvsalud.org)
Deletion3
  • Possible types of mutations in chromosomes include Deletion When a segment of DNA is lost, so there is a missing segment in the chromosome. (ps3magic.de)
  • CGH array revealed a deletion around 1.25 Mb at 9p24.3 loci [arr 9p24.3(204,193-1,457,665)× 1] and three duplications around 13 Mb [9p24.3p22.3(1,477,660-14,506,754)× 3] near the breakage point that formed the ring chromosome 9. (biomedcentral.com)
  • Here we report a case of donor cell-derived acute myeloid leukaemia with 3q26.2 involvement/MECOM rearrangement and chromosome 20q deletion. (lidsen.com)
Heredity1
  • In his famous textbook The Cell in Development and Heredity, Wilson linked together the independent work of Boveri and Sutton (both around 1902) by naming the chromosome theory of inheritance the Boveri-Sutton chromosome theory (the names are sometimes reversed). (wikipedia.org)
Fetal1
Males3
  • and Double Y: 18 per 100,000 males. (biomedcentral.com)
  • In some instances, instead of XX (for females) and XY (for males), an individual may inherit an extra chromosome leading to a condition called Trisomy. (xcode.in)
  • B. This chromosomal aberration tends to manifest in males in the form of absent or delayed puberty, sterility, development of breast, etc. (schleiden-eifel.de)
Diploid cell2
  • 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). (lookformedical.com)
  • If a normal diploid cell is 2n, the chromosome content of a double tetrasomic cell is designated. (schleiden-eifel.de)
Locus1
  • The authors recently mapped a susceptibility locus for autism to chromosome region 2q24-q33 (MIM number 606053). (neurotransmitter.net)
Mutations3
  • Chromosome mutations are alterations occurring in chromosomes that typically result from errors during nuclear division or from mutagens. (ps3magic.de)
  • Chromosomal mutations Chromosomal aberration (intergenic changes). (ps3magic.de)
  • May 21, 2021 All mutations that change the total number of chromosomes are considered to be genome mutations. (ps3magic.de)
Theory of inheritance1
  • Walter Sutton (left) and Theodor Boveri (right) independently developed the chromosome theory of inheritance in 1902. (wikipedia.org)
Abnormal1
Copies2
  • Before this happens, each chromosome is duplicated (S phase), and both copies are joined by a centromere, resulting either in an X-shaped structure (pictured above), if the centromere is located equatorially, or a two-arm structure, if the centromere is located distally. (wikipedia.org)
  • This phenomenon occurs during spermatogenesis, resulting in three copies of the chromosome 21. (bvsalud.org)
Rearrangements2
  • Telomere Dysfunction, Chromosomal Instability and Cancer -- Genetic Instability and Disease Prognostication -- Causes of Chromosomal Instability -- Patterns of Chromosomal Aberrations in Solid Tumors -- Yeast as Models of Mitotic Fidelity -- The Diverse Effects of Complex Chromosome Rearrangements and Chromothripsis in Cancer Development. (nshealth.ca)
  • These are some of the most common cytogenetically visible rearrangements in humans - for example , the pericentric inversion of chromosome 9 is found in over. (schleiden-eifel.de)
Chromatin1
  • Some use the term chromosome in a wider sense, to refer to the individualized portions of chromatin in cells, either visible or not under light microscopy. (wikipedia.org)
Mitosis1
Distantly2
  • Phylogenomic studies using chromosome painting confirms the high conservation of DNA between even distantly related species [ 13 ]. (biomedcentral.com)
  • A comparison of human and chimpanzee genes in the region of this inversion indicates that two genes-ROCK1 and USP14-that are adjacent on chimpanzee chromosome 17 (which corresponds to human chromosome 18) are more distantly positioned on human chromosome 18. (schleiden-eifel.de)
Euchromatin1
Alterations4
  • Aneuploid tumors contained large numbers of genetic alterations with the sum gain of at least 2 chromosomes (A-, B- or C-group) detected by HR-CGH. (biomedcentral.com)
  • In the "simple-diploid" cases no or few genetic alterations could be detected, whereas the "complex-diploid" samples numerous aberrations (equal or more than 3) could be found. (biomedcentral.com)
  • This is AML with myelodysplasia-associated cytogenetic alterations, which includes a whole range of unbalanced and balanced aberrations. (altmeyers.org)
  • complex alterations with more than three recurrent chromosomal aberrations in one clone. (altmeyers.org)
Genome1
  • A total of 93 BAC clones were used to localize the chromosome complement of the species and 588 genes were annotated, thus almost reaching the 2.5% of the genome sequences. (metasystems-international.com)
Species2
Autosomes1
  • Trisomy of autosomes does not usually permit survival, but there are some that do. (mindmeister.com)
Telomeres1
Determination1
  • Elaborating its molecular defects play an imperative role in understanding sex determination and development in the embryo. (biomedcentral.com)
Haploid1
Cancer3
  • The Division provides solutions for cancer diagnosis and pre & post-natal genetic aberration diagnosis as well as diagnosis of infectious diseases like HIV, HBV, HCV, CMV, CT/NG, Sepsis, etc. (dssimage.com)
  • Investigation of Clinically Significant Molecular Aberrations in Patients with Prostate Cancer: Implications for Personalized Treatment, Prognosis and Genetic Testing. (medicover-genetics.com)
  • Thousands of chromosomal aberrations have been discovered in different types of cancer. (schleiden-eifel.de)
Anaphase1
20211
Arranged in pairs1