AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesDisciplines and OccupationsAnthropology, Education, Sociology and Social Phenomena
Sex Chromosome AberrationsSex ChromosomesChromosome AberrationsChromosomesGenes, RecessiveChromosome MappingX ChromosomeKaryotypingIn Situ Hybridization, FluorescenceChromosome BandingY ChromosomeSister Chromatid ExchangeChromosomes, HumanChromosome DisordersAneuploidySex Chromosome DisordersChromosome PaintingChromosomes, Human, Pair 1Chromosomes, Human, XMicronucleus TestsChromosomes, Human, YSex Determination ProcessesMutagenicity TestsChromosomes, Human, Pair 11Chromosomes, Human, Pair 7Chromosome PairingCytogeneticsChromosomes, PlantCytogenetic AnalysisTranslocation, GeneticSileneChromosomes, Human, Pair 13Chromosome DeletionMutagensChromosome SegregationX Chromosome InactivationNuclear WarfareCorneal Wavefront AberrationChromosomes, Human, Pair 18Genes, Y-LinkedMosaicismLymphocytesAmericiumGenes, X-LinkedChromosomes, Human, Pair 17Chromosomes, Artificial, BacterialChromosomes, Human, Pair 21MutationMetaphaseGenetic LinkageChromosomes, Human, Pair 4Chromosome BreakageChromosomes, Human, Pair 6MeiosisChromosomes, Bacterial
GenesTransmitted in an autosomal recessiveStructure of chromosomesAutosomal recessive diseaseDisordersAlleleTranslocationsInheritanceHomologous chromosomesMutationAutosomesMalesDiploidAbnormalityAbnormalDeterminationMetaphaseInversionsSomatic cellsSyndromeAllelesPairsMitotic spindleDominantSusceptibilityTrisomyChromosomal InstabilityBreakageStructuralLocusMutationsAutosomeAbnormalitiesGonadalAneuploidyHeredityCentromerePhenotypesBreakpointsDeletionsRearrangementsEvidenceMiceTendencyDeoxyribonucleic acidTypeGenetic materialSisterPromoterMolecular
Genes15
  • Chromosomes are structures within cells that contain DNA and many genes. (solarpoultry.com)
  • A gene is a segment of deoxyribonucleic acid (DNA) and contains the code for a specific protein that functions in one or more types of cells in the body (see Genes and Chromosomes for a discussion about genetics). (solarpoultry.com)
  • X chromosome inactivation is the the process by which most genes on one of the two X chromosomes in females are silenced epigenetically and randomly, and so fail to produce any product. (solarpoultry.com)
  • Autosomes can be described as the non-sex chromosomes that play diverse roles in the human body like harboring genes for the body's metabolism, functioning, and growth. (biologyonline.com)
  • Aberrations in autosomal genes can give rise to a wide range of genetic disorders. (biologyonline.com)
  • The matrix-assisted laser desorption ionization-time of flight (MALDI-TOF) mass spectroscopy-based genotyping system was used to genotype 601 individuals (200 lung cancer patients and 401 age- and sex-matched healthy controls) for polymorphisms in excision repair cross-complementing group 1 ( ERCC1 ) and ERCC5 genes. (jcancer.org)
  • Pedigrees consistent with autosomal recessive inheritance have also been reported but the responsible genes are unknown. (arizona.edu)
  • The group of genes found on one chromosome which has a tendency to be inherited together is called a linkage group. (rbsesolutions.com)
  • Barnyard specials' can have enormous variation in colour because when you start mixing genes, recessive colours and patterns get the opportunity to burst out. (thisnzlife.co.nz)
  • Since humans have approximately 32,000 genes, it is to be expected that most sex cells contain at least one mutation of some sort. (scienceclarified.com)
  • Chromosome aberrations can affect one or more genes in a complex manner, such as by changing the regulation of gene expression, by disrupting exons, and by creating fusion genes. (biomedcentral.com)
  • Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure. (cdc.gov)
  • We aimed to provide a comprehensive analysis of all X chromosome-linked protein-coding genes in 2,354 azoospermic/cryptozoospermic men from four independent cohorts. (cdc.gov)
  • 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)
Transmitted in an autosomal recessive1
  • Chromosomal breakage syndromes are a group of genetic disorders that are typically transmitted in an autosomal recessive mode of inheritance. (medscape.com)
Structure of chromosomes2
Autosomal recessive disease1
  • This type is also known as Perrault syndrome, an autosomal recessive disease affecting both sexes. (wikipedia.org)
Disorders13
  • Known human disorders include Charcot-Marie-Tooth disease type 1A, which may be caused by duplication of the gene encoding peripheral myelin protein 22 (PMP22) on chromosome 17. (solarpoultry.com)
  • Chromosomal disorders: numerical disorders The most frequent cause of numerical disorders in chromosomes tends to be n ondisjunction. (solarpoultry.com)
  • Title: Microsoft Word - Chapter 8 - Ch Author: gregory carey Created Date: 10/4/2000 3:51:47 PM A. Trisomy Disorders disorders in which an individual has an extra (or piece of an extra) chromosome. (solarpoultry.com)
  • Genetic Disorders refer to any abnormality in the individual gene(s) or the chromosomes which are caused due to the change in the sequence of the DNA or gain or loss of gene(s) or chromosomes. (solarpoultry.com)
  • Presentation Summary : Human Chromosomal Disorders Human disorders due to chromosome alterations in autosomes (Chromosomes 1-22). (solarpoultry.com)
  • chromosomal disorders It is caused due to absence or excess or abnormal arrangement of one or more chromosomes. (solarpoultry.com)
  • These chromosomes play a pivotal role in various aspects of human development, including metabolic pathways, cellular homeostasis , and genetic disorders. (biologyonline.com)
  • Autosomal recessive disorders like cystic fibrosis or sickle cell anemia require both copies of an autosomal gene to be mutated for the disorder to manifest. (biologyonline.com)
  • 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)
  • Hereditary disorders are passed down from parent to offspring via different patterns of inheritance, including autosomal dominant , autosomal recessive , X-linked , and mitochondrial inheritance . (amboss.com)
  • Table 1 provides a summary outline of the gene symbols, chromosomal locations, radiation sensitivity characteristics, immunodeficiencies, chromosome breakage characteristics, and major cancer risk for each of these disorders. (medscape.com)
  • Chromosome aberrations may result in CHROMOSOME DISORDERS. (lookformedical.com)
  • OBJECTIVE@#To explore the genetic basis of three children with disorders of sex development (DSD) in association with rare Y chromosome rearrangements. (bvsalud.org)
Allele3
  • In corn, a color in the aleurone (part of the seed) arises from the dominant allele A. The recessive allele, a, produces an aleurones with no color. (collepals.com)
  • Leaf color is controlled by a second, linked gene, L. The recessive allele, l, causes plants to become yellow, whereas the dominant L allele confers a green leaf color. (collepals.com)
  • If X - chromosome contains recessive allele of pigment formation gene than no cone formation takes place and man suffers from colour blindness. (rbsesolutions.com)
Translocations2
  • The transcription units are shown above the genomic DNA, while chromosomal aberrations are shown below (solid triangles indicate insertions of transposable elements and upward arrows indicate breakpoints of translocations and inversions). (nih.gov)
  • DNA Repair and Chromosomal Translocations -- CINcere modelling: What have mouse models for chromosome instability taught us? (nshealth.ca)
Inheritance1
  • Segregation analysis showed 66.6% (n = 3 for CNVs and n = 17 for SNVs) and 16.6% (n = 5) of the cases had de novo and recessive variants respectively, which is in concordance with the distribution of variant types and mode of inheritance observed in ASD patients of non-Hispanic white/ European ethnicity. (biomedcentral.com)
Homologous chromosomes5
Mutation3
  • Mutagenic studies consisted of unscheduled DNA synthesis in human diploid WI-38 cells, mutation frequency in host mediated assays, sex linked recessive lethal mutation and loss of X or Y chromosomes in Drosophila melanogaster, spermhead abnormality in rats and mice, chromosomal aberrations in rat bone marrow, and rat dominant lethal experiments. (cdc.gov)
  • They can be as small as a point mutation, which is a change in a single DNA condon [three base pairs in a DNA sequence that specify the instructions for making an amino acid] or as large as a major structural modification in chromosomes and even missing or extra chromosomes. (scienceclarified.com)
  • In order for a mutation to be inherited, it must occur in the genetic material of a sex cell,' O'Neil says. (scienceclarified.com)
Autosomes5
  • The mother and father each contribute one set of 22 autosomes and one sex chromosome. (solarpoultry.com)
  • An important point to note here is that certain autosomes do play a role in phenotypic sex determination! (biologyonline.com)
  • So, we can't say that autosomes have no role in phenotypic sex determination in humans because they play an integral and indispensable role! (biologyonline.com)
  • Human autosomes , the non-sex human chromosomes, are integral components of the human genome . (biologyonline.com)
  • The human genome is composed of 23 pairs of chromosomes, with autosomes (22 pairs) comprising the majority. (biologyonline.com)
Males3
Diploid1
  • 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)
Abnormality3
  • Perchloroethylene caused spermhead abnormality in mice, positive responses in host mediated assay, and weak or borderline responses in tests for unscheduled DNA synthesis and bone marrow aberrations. (cdc.gov)
  • In Turner syndrome there is a demonstrable abnormality in or absence of one of the sex chromosomes that is the cause of the development of gonadal dysgenesis. (wikipedia.org)
  • It is an autosomal abnormality which is caused due to one extra 21st chromosome (45 + 2 = 47). (rbsesolutions.com)
Abnormal2
  • The result is an abnormal number of chromosomes. (solarpoultry.com)
  • Other evidence of chromosomal abnormalities include abnormal sexual development, behavioral disturbances, malignancy (e.g., the Philadelphia chromosome in chronic myelocytic leukemia), and spontaneous abortion. (solarpoultry.com)
Determination2
  • The common belief is that they don't have any role to play in sex determination. (biologyonline.com)
  • Figure 2: SOX9 gene on the autosome 17 (long arm) plays an integral role in gonadal sex determination. (biologyonline.com)
Metaphase1
  • Mosaic) aneuploidies and chromosomal rearrangements are a frequent cause of idiopathic MCA/MR. Starting in 1959 with the identification of trisomy-21 as the genetic basis of Down syndrome [ 10 ], microscopic observation of metaphase chromosomes has for several decades been the method of choice for detecting chromosome abnormalities in MCA/MR patients. (biomedcentral.com)
Inversions1
  • Inversions: A portion of the chromosome has broken off, turned upside down, and reattached, therefore the genetic material is inverted. (solarpoultry.com)
Somatic cells3
  • These chromosomes exist in pairs in the somatic cells in contrast to their solo presence in germinal or sex cells , i.e. gametes . (biologyonline.com)
  • Repair of mitomycin-C-induced chromosomal aberrations was impaired in RAD51B/Rad51b-c.92delT human and mouse somatic cells in vitro and in explanted mouse bone marrow cells. (nature.com)
  • 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)
Syndrome8
  • Down Syndrome - Extra chromosome at position 21. (solarpoultry.com)
  • Trisomy 21, also referred to as Down's syndrome, is a chromosomal aberration characterized by the presence of an additional chromosome 21.Trisomy 21 is associated with a rate of incidence of 1:600 among newborns and is one of the most common chromosomal … However, they can also have detrimental effects. (solarpoultry.com)
  • The attached sheet shows the karyotype of four human individuals (A through D). Complete the following table to identify the sex, and the chromosomal aberration or name of the syndrome. (collepals.com)
  • Individual Sex Aberration or syndrome name A B C D c. (collepals.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)
  • How many chromosomes may be present in Klinefelter's syndrome? (rbsesolutions.com)
  • All the MPSs are inherited in an autosomal recessive fashion except Hunter syndrome (MPS type II), which is X-linked. (medscape.com)
Alleles2
  • Assuming that plant height is controlled by a single gene, use genetic symbols to explain the F1 phenotype, and indicate the relationship between the two alleles (e.g., dominant, or recessive, or Éetc. (collepals.com)
  • All homologous chromosome pairs contain two variant forms of the same gene , called " alleles ," which are passed down from parent to offspring. (amboss.com)
Pairs4
  • This consists of a failure in the chromosome pairs or the chromatids to separate in the first or second meiotic divisions or during mitosis. (solarpoultry.com)
  • General designation for syndromes due to chromosomal aberrations, typically associated with mental … Thus, there are normally 23 pairs of chromosomes in the fertilized egg. (solarpoultry.com)
  • These chromosomes occur in pairs (22 pairs) and are 44 in number in human beings. (biologyonline.com)
  • The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. (lookformedical.com)
Mitotic spindle1
  • Mediates attachment of the chromosome to the meiotic or mitotic spindle . (amboss.com)
Dominant1
Susceptibility1
  • The authors recently mapped a susceptibility locus for autism to chromosome region 2q24-q33 (MIM number 606053). (neurotransmitter.net)
Trisomy1
  • Because of the various life-threatening medical problems surrounding this condition, the majority of infants with trisomy 13 … 12.24, the two resultant telocentric chromosomes may open up to produce chromosomes with two identical arms (i.e., iso-chromosomes). (solarpoultry.com)
Chromosomal Instability1
  • 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)
Breakage2
Structural7
  • 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)
  • Structural mutations can be at the level of a complete chromosome (e.g. (identifai-genetics.com)
  • Almost every chromosome is affected by numeric or structural aberrations. (neurotransmitter.net)
  • Such structural or numerical chromosomal aberrations are specific for distinct tumor entities. (nshealth.ca)
Locus1
  • The dystrophin gene is located on the short arm of chromosome X near the p21 locus and codes for the large protein Dp427, which contains 3685 amino acids. (medscape.com)
Mutations2
  • Our descendants have become, due to genetic mutations as yet unspecified, "aberrations," aka "Abbies," which Wikipedia accurately calls "violent humanoid predators. (plos.org)
  • Estimates of the frequency of mutations in human sex cells generally are about one per 10 to 100,000 for any specific gene. (scienceclarified.com)
Autosome2
  • An autosome is defined as any chromosome other than the sex chromosomes . (biologyonline.com)
  • SOX9 gene) of autosome 17 has an effect on how the gonads will develop, for instance, a dysfunctional SOX9 gene has been found to be associated with sex reversals. (biologyonline.com)
Abnormalities2
  • 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)
  • They underlie genetic disease in roughly 15% of patients with multiple congenital abnormalities and/or mental retardation (MCA/MR). In genetic diagnostics, the pathogenicity of chromosomal aberrations in these patients is typically assessed based on criteria such as phenotypic similarity to other patients with the same or overlapping aberration, absence in healthy individuals, de novo occurrence, and protein coding gene content. (biomedcentral.com)
Gonadal1
  • In contrast XX gonadal dysgenesis has a normal female chromosome situation. (wikipedia.org)
Aneuploidy1
  • Aneuploidy - failure of segregation of chromatids during cell division cycle results in the gain or loss of chromosome. (solarpoultry.com)
Heredity1
  • Using one sentence for each example, explain five lines of evidence in support of the chromosome theory of heredity. (collepals.com)
Centromere2
  • Iso-chromosomes: A new type of chromo-some may arise from a break (i.e., a misdivision) at the centromere. (solarpoultry.com)
  • of someones chromosomes (while a cell is in mitosis), cut them out and match them up using size, banding pattern and centromere position as guides. (solarpoultry.com)
Phenotypes2
  • In spite of the clear association between large ( de novo ) CNVs and other SVs (collectively known as chromosomal aberrations) with MCA/MR phenotypes [ 9 ], precise characterization of molecular mechanisms that cause disease in individual patients is often unknown. (biomedcentral.com)
  • Finally, we summarize the possible molecular consequences of chromosome aberrations for gene expression and function, and we discuss approaches for identification and unraveling the molecular determinants of congenital disease phenotypes. (biomedcentral.com)
Breakpoints1
  • Subsequently, the introduction and relevance of new methods for high-resolution dissection of breakpoints of chromosomal aberrations is discussed. (biomedcentral.com)
Deletions1
  • Like deletions, duplications can happen anywhere along the chromosome. (solarpoultry.com)
Rearrangements1
  • CONCLUSION@#Combined use of genetic techniques can delineate complex rearrangements involving Y chromosome in patients featuring short stature and DSD. (bvsalud.org)
Evidence1
  • The disease affects the muscles with definite fiber degeneration but without evidence of morphologic aberrations. (medscape.com)
Mice1
  • Rad51b c.92delT/c.92delT mice exhibited meiotic DNA repair defects due to RAD51 and HSF2BP/BMRE1 accumulation in the chromosome axes leading to a reduction in the number of crossovers. (nature.com)
Tendency1
Deoxyribonucleic acid1
  • It includes a small number of papers dealing with the detailed mechanism of the action of LSD on the deoxyribonucleic acid (DNA), the most important constituent of the chromosomes. (druglibrary.net)
Type4
  • This type of chromosome is produced in irradiated mate-rial. (solarpoultry.com)
  • 14. Which of the following is not a type of chromosomal aberration? (examyear.com)
  • When not physically linked, the elements interact with elements on the homologous chromosome and cause derepression of its wild-type Scr gene. (nih.gov)
  • A type of chromosomal aberration involving DNA BREAKS. (lookformedical.com)
Genetic material1
  • The resulting recombinase-coated ssDNA filaments can invade the homologous chromosome dsDNA, searching for a complementary sequence (chromosome pairing), which will foster genetic material exchange. (nature.com)
Sister1
  • Citation: Loveday KS, Anderson BE, Resnick MA, Zeiger E. Chromosome aberration and sister chromatid exchange tests in Chinese hamster ovary cells in vitro. (nih.gov)
Promoter2
  • The chromosomal aberrations identified an imaginal leg enhancer about 35 kb upstream of the Scr promoter. (nih.gov)
  • The enhancer is not only able to activate transcription of the Scr promoter that is 35 kb distant but can also activate transcription of the Scr promoter on the homologous chromosome. (nih.gov)
Molecular1