• Incidence
  • Nielsen J, Sillesen I (1975) Incidence of chromosome aberrations among 11148 newborn children. (springer.com)
  • Incidence and mortality for sex-unspecific cancers is higher among men and is largely unexplained 1 , 2 . (pubmedcentralcanada.ca)
  • We used the Surveillance, Epidemiology and End Results program data to compute age-adjusted (2000 U.S. standard population) sex-specific incidence rates and male-to-female incidence rate ratios (IRR) for specific cancer sites and histologies for the period 1975 to 2004. (aacrjournals.org)
  • The incidence and severity of diseases vary between the sexes and may be related to differences in exposures, routes of entry and the processing of a foreign agent, and cellular responses. (aacrjournals.org)
  • However, few studies have explicitly set out to focus on sex ratios of cancer incidence, and no study has done this using U.S. data. (aacrjournals.org)
  • This study uses data from the Surveillance, Epidemiology and End Results (SEER) cancer registry program to analyze age-adjusted male-to-female incidence rate ratios (IRR) and sex-specific incidence rates by cancer site, histology, year of diagnosis, and age of diagnosis. (aacrjournals.org)
  • species
  • In most species of animals the sex of individuals is determined decisively at the time of fertilization of the egg, by means of chromosomal distribution. (britannica.com)
  • Polysomy is a condition found in many species, including fungi, plants, insects, and mammals, in which an organism has at least one more chromosome than normal, i.e., there may be three or more copies of the chromosome rather than the expected two copies. (wikipedia.org)
  • Most eukaryotic species are diploid, meaning they have two sets of chromosomes, whereas prokaryotes are haploid, containing a single chromosome in each cell. (wikipedia.org)
  • gene
  • When a dominant gene is passed on to offspring, the feature or trait it determines will appear regardless of the characteristics of the corresponding gene on the chromosome inherited from the other parent. (encyclopedia.com)
  • If the gene is recessive, the feature it determines will not show up in the offspring unless both the parents' chromosomes contain the recessive gene for that characteristic. (encyclopedia.com)
  • and Figure 5.3 shows the hereditary hemochromatosis gene located on chromosome 6. (encyclopedia.com)
  • A CGH/SNP array (Illumina) revealed a gain of 153,7 Mbp of the X chromosome and a 803-kbp microdeletion (including the SHOX gene), which were also confirmed with FISH. (biomedcentral.com)
  • The ultimate phenotype varies because several other factors are involved: the locations of the breakpoints on the X and Y chromosomes and the corresponding genomic imbalances, the presence/loss of the SRY gene locus, tissue mosaicism and an irregular X-inactivation pattern. (biomedcentral.com)
  • The SHOX gene is localized in pseudoautosomal region 1 (PAR1), which is homologous sequence of nucleotides on both sex chromosomes and comprises 2,6 Mbp at Xp22.33 and Yp11.32. (biomedcentral.com)
  • Chromosome mutation was formerly used in a strict sense to mean a change in a chromosomal segment, involving more than one gene. (wikipedia.org)
  • 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. (wikipedia.org)
  • When the SRY gene of the Y chromosome is expressed in human embryos, a cascade of gene interactions controlled by SOX9 begins and ultimately leads to male gender. (wikipedia.org)
  • In squamous cell carcinoma, a protein from the epidermal growth factor receptor (EGFR) gene is often overexpressed in conjunction with polysomy of chromosome 7, so chromosome 7 can be used to predict the presence of EGFR in squamous cell carcinoma. (wikipedia.org)
  • Overexpression of the HER2/neu gene on chromosome 17 and some type of polysomy has been reported in 8-68% of breast carcinomas. (wikipedia.org)
  • The SMARCB1 gene (also termed BAF47, INI1, or hSNF5) is located on chromosome 22q11.2 and codes for a member of the SWI/SNF chromatin remodeling complex. (wikipedia.org)
  • organism
  • A chromosome (from ancient Greek: χρωμόσωμα, chromosoma, chroma means color, soma means body) is a DNA molecule with part or all of the genetic material (genome) of an organism. (wikipedia.org)
  • DISORDERS
  • These disorders manifest in and are passed on by either sex with equal frequency. (wikipedia.org)
  • An unusual aspect of the disease is that up to two-thirds of affected 46,XY genotypic males display a range of Disorders of Sexual Development (DSD) and genital ambiguities or may even develop as normal phenotypic females as in complete 46 XY sex reversal. (wikipedia.org)
  • copies
  • For example, the karyogram of someone with Patau Syndrome would show that they possess three copies of chromosome 13. (wikipedia.org)
  • A common example is Down syndrome, which is caused by possessing three copies of chromosome 21 instead of the usual two. (wikipedia.org)
  • The chromosome consists of two copies of either the long (q) arm or the short (p) arm because isochromosome formation is equivalent to a simultaneous duplication and deletion of genetic material. (wikipedia.org)
  • deletion
  • Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p− syndrome (pronounced "Five P Minus") or Lejeune's syndrome, is a rare genetic disorder due to chromosome deletion on chromosome 5. (wikipedia.org)
  • Cri du chat syndrome is due to a partial deletion of the short arm of chromosome number 5, also called "5p monosomy" or "partial monosomy. (wikipedia.org)
  • Prenatally the deletion of the cri du chat related region in the p arm of chromosome 5 can be detected from amniotic fluid or chorionic villi samples with BACs-on-Beads technology. (wikipedia.org)
  • centromeres
  • Breakpoints on the short arm of the X and Y chromosomes constitute a rare subgroup of t(X;Y), giving rise to a derived chromosome containing the centromeres of both the X and Y chromosomes, dic(X;Y). (biomedcentral.com)
  • Since assembly of kinetochore proteins at centromeres is affected by the methylation of cytosine and histone proteins, a reduction in heterochromatin integrity as a result of hypomethylation can interfere with microtubule attachment to chromosomes and with the sensing of tension from correct microtubule-kinetochore connections. (wikipedia.org)
  • Attention is paid to their length, the position of the centromeres, banding pattern, any differences between the sex chromosomes, and any other physical characteristics. (wikipedia.org)
  • mutations
  • The mutagenic property of mutagens was first demonstrated in 1927, when Hermann Muller discovered that x-rays can cause genetic mutations in fruit flies, producing phenotypic mutants as well as observable changes to the chromosomes, visible due to presence of enlarged 'polytene' chromosomes in fruit fly salivary glands. (wikipedia.org)
  • Any mutation within the coding region of SOX9 can cause campomelic dysplasia and 75% of the reported mutations lead to sex reversal. (wikipedia.org)
  • The lack of correlation between specific genetic mutations and observed phenotype, particularly with regard to sex reversal, give clear evidence of the variable expressivity of the disease. (wikipedia.org)
  • metaphase
  • All human autosomes have been identified and mapped by extracting the chromosomes from a cell arrested in metaphase or prometaphase and then staining them with some sort of dye (most commonly, Giemsa). (wikipedia.org)
  • Chromosomes are normally visible under a light microscope only when the cell is undergoing the metaphase of cell division. (wikipedia.org)
  • During metaphase the X-shape structure is called a metaphase chromosome. (wikipedia.org)
  • Joe Hin Tjio working in Albert Levan's lab was responsible for finding the approach: Using cells in culture Pre-treating cells in a hypotonic solution, which swells them and spreads the chromosomes Arresting mitosis in metaphase by a solution of colchicine Squashing the preparation on the slide forcing the chromosomes into a single plane Cutting up a photomicrograph and arranging the result into an indisputable karyogram. (wikipedia.org)
  • cytogenetic
  • Techniques used include karyotyping, analysis of G-banded chromosomes, other cytogenetic banding techniques, as well as molecular cytogenetics such as fluorescent in situ hybridization (FISH) and comparative genomic hybridization (CGH). (wikipedia.org)
  • Syndrome
  • You can learn more about each sex chromosome anomaly syndrome in their own separate disease description. (diseaseinfosearch.org)
  • An example of monosomy is Turner syndrome, where the individual is born with only one sex chromosome, an X. Exposure of males to certain lifestyle, environmental and/or occupational hazards may increase the risk of aneuploid spermatozoa. (wikipedia.org)
  • Turner syndrome is a condition in females in which there is partial or complete loss of one X chromosome. (wikipedia.org)
  • genome
  • Conventional karyotypes can assess the entire genome for changes in chromosome structure and number, but the resolution is relatively coarse, with a detection limit of 5-10Mb. (wikipedia.org)
  • occur
  • Recessive sex-linked traits, such as hemophilia and red-green colour blindness , occur far more frequently in men than in women. (britannica.com)
  • Errors in chromosome patterns can occur during the formation of the egg or sperm or during embryological development. (scienceclarified.com)
  • females
  • Affected females reach puberty, develop secondary sex characteristics, and menstruate at the usual time. (wikipedia.org)
  • In both sexes sensorineural deafness occurs but in females ovarian dysgenesis also occurs. (wikipedia.org)
  • dicentric
  • The SRY locus was present on the dicentric chromosome. (biomedcentral.com)
  • Other possible causes of chromosome loss that could lead to micronuclei formation are defects in kinetochore and microtubule interactions, defects in mitotic spindle assembly, mitosis check point defects, abnormal centrosome amplification, and telomeric end fusions that result in dicentric chromosomes that detach from the spindle during anaphase. (wikipedia.org)
  • fetus
  • As part of a larger prospective study of the influence of environmental factors on pregnancy, birth and the fetus, chromosome examinations have been made in 34910 newborn children in Århus over a 13-year period. (springer.com)
  • inheritance
  • Aided by the rediscovery at the start of the 1900s of Gregor Mendel's earlier work, Boveri was able to point out the connection between the rules of inheritance and the behaviour of the chromosomes. (wikipedia.org)
  • 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)
  • McClintock continued her career in cytogenetics studying the mechanics and inheritance of broken and ring (circular) chromosomes of maize. (wikipedia.org)
  • Autopolyploids may show polysomic inheritance of all the linkage groups, and their fertility may be reduced due unbalanced chromosome numbers in the gametes. (wikipedia.org)
  • eukaryotic
  • Most eukaryotic chromosomes include packaging proteins which, aided by chaperone proteins, bind to and condense the DNA molecule to prevent the DNA from becoming an unmanageable tangle. (wikipedia.org)
  • fusions
  • Polysomy of chromosome 13 (Polysomy 13) is significant in the development of prostate cancer and is often caused by centric fusions. (wikipedia.org)
  • pairs
  • Karyograms and staining techniques can only detect large-scale disruptions to chromosomes-chromosomal aberrations smaller than a few million base pairs generally cannot be seen on a karyogram. (wikipedia.org)
  • By inspection through the microscope, he counted 24 pairs, which would mean 48 chromosomes. (wikipedia.org)
  • The chromosomes of most bacteria, which some authors prefer to call genophores, can range in size from only 130,000 base pairs in the endosymbiotic bacteria Candidatus Hodgkinia cicadicola and Candidatus Tremblaya princeps, to more than 14,000,000 base pairs in the soil-dwelling bacterium Sorangium cellulosum. (wikipedia.org)
  • Comparative
  • It detects genomic copy number variations at a higher resolution level than conventional karyotyping or chromosome-based comparative genomic hybridization (CGH). (wikipedia.org)