• 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)
  • DISORDERS
  • These disorders manifest in and are passed on by either sex with equal frequency. (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)
  • 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)
  • 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)
  • 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)
  • The sex of an unborn fetus can be determined by observation of interphase cells (see amniotic centesis and Barr body). (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
  • Joe Hin Tjio working in Albert Levan's lab was responsible for finding the approach: Using cells in tissue culture Pretreating 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)
  • 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)
  • 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)
  • 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)
  • males
  • In this case, 'biology' was manifest in the chromosome number of XYY males. (scienceclarified.com)
  • Human females have two X chromosomes, and males have one X and one Y chromosome. (scienceclarified.com)
  • When the chromosome constitution 47, XYY was discovered in 1961, individuals with this chromosome pattern were called XYY males. (scienceclarified.com)
  • By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. (wikipedia.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)
  • While the definitive presentation of the disease is a patient having bowed lower limbs and sex reversal in 46,XY males, there are other clinical criteria that can be used, absent these characteristics, to make the diagnosis. (wikipedia.org)
  • pairs
  • For example, the legumes Lotus tenuis and Vicia faba each have six pairs of chromosomes, yet V. faba chromosomes are many times larger. (wikipedia.org)
  • 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)
  • embryos
  • 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)
  • secondary sex characteris
  • Affected females reach puberty, develop secondary sex characteristics, and menstruate at the usual time. (wikipedia.org)
  • Because of the inability of the streak gonads to produce sex hormones (both estrogens and androgens), most of the secondary sex characteristics do not develop. (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)
  • Chromosome mutation was formerly used in a strict sense to mean a change in a chromosomal segment, involving more than one gene. (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)
  • recessive
  • Recessive sex-linked traits, such as hemophilia and red-green colour blindness , occur far more frequently in men than in women. (britannica.com)
  • This is because the male who inherits the recessive allele on his X chromosome has no allele on his Y chromosome to counteract its effects. (britannica.com)
  • The female, on the other hand, must inherit the recessive allele on both of her X chromosomes in order to fully display the trait. (britannica.com)
  • A woman who inherits the recessive allele for a sex-linked disorder on one of her X chromosomes may, however, show a limited expression of the trait. (britannica.com)
  • 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)
  • 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)
  • mitosis
  • 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)
  • centromeres
  • 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)
  • 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)
  • variations
  • It detects genomic copy number variations at a higher resolution level than conventional karyotyping or chromosome-based comparative genomic hybridization (CGH). (wikipedia.org)
  • male
  • Normal X and Y chromosome profiles were established by analysis with DNA from normal fertile male and female individuals. (bmj.com)
  • The presence of SRY on the X chromosome leads to normal male sexual development with male external genitalia, but hypospadias or cryptorchidism may be seen. (medscape.com)
  • individuals having one X chromosome and one Y chromosome (XY) are male. (britannica.com)
  • 2560 probes in the male specific region of chromosome Y (mLRR-Y) and suggested considerable inter-individual differences regarding the proportion of cells with nullisomy Y. A conservative estimate of the frequency of LOY in the ULSAM cohort at 8.2% (93/1141) was based on the lowest value (-0.139) in a simulated distribution of experimental variation of mLRR-Y ( Fig. 2 ). (pubmedcentralcanada.ca)
  • Associated with a more positive outcome are younger age, female vs. male sex, distal vs. proximal location, smaller tumor size, and negative margins upon tumor resection. (wikipedia.org)