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  • genes
  • Autosomes still contain sexual determination genes even though they are not sex chromosomes. (wikipedia.org)
  • This incorrect segregation of chromosomes may result from hypomethylation of repeat sequences present in pericentromeric DNA, irregularities in kinetochore proteins or their assembly, dysfunctional spindle apparatus, or flawed anaphase checkpoint genes. (wikipedia.org)
  • The RUNX1 and CBFB genes are targets of chromosome rearrangements that create oncogenic fusion genes in leukemia. (wikipedia.org)
  • The chromosome translocation t(12;21) (p13.1;q22) causes the fusion of the ETS variant 6 (ETV6) and RUNX1 genes results in ETV6-RUNX1 gene fusion and is the most common genetic aberration in childhood acute lymphoblastic leukemia (ALL). (wikipedia.org)
  • This occurs because loss of these genes causes an increase in chromosome fusions, either in an end-to-end manner or through topological entrapment (e.g., catenation or unresolved DNA cross-links), have also been associated with chromatin bridge formation. (wikipedia.org)
  • Autosomal
  • In 2015, it was found that chromothripsis can also be curative: a woman who had WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome, an extremely rare autosomal dominant combined immunodeficiency disease, found her symptoms disappeared during her 30s after chromothripsis of chromosome 2 deleted the disease allele. (wikipedia.org)
  • FANCB is the one exception to FA being autosomal recessive, as this gene is on the X chromosome. (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)
  • mutation
  • In a population of cells, mutant cells will increase or decrease in frequency according to the effects of the mutation on the ability of the cell to survive and reproduce. (wikipedia.org)
  • The nuclear envelopathy with the highest frequency in human populations is Emery-Dreifuss muscular dystrophy caused by an X-linked mutation in the EMD gene coding for emerin and affecting an estimated 1 in 100,000 people. (wikipedia.org)
  • allele
  • About 2% of FA cases are X-linked recessive, which means that if the mother carries one mutated Fanconi anemia allele on one X chromosome, a 50% chance exists that male offspring will present with Fanconi anemia. (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)
  • This suggest that the rearrangements took place at a time that both parental copies of the chromosome were present and hence early on the development of the cancer cell. (wikipedia.org)
  • In humans, an example of a condition caused by a numerical anomaly is Down Syndrome, also known as Trisomy 21 (an individual with Down Syndrome has three copies of chromosome 21, rather than two). (wikipedia.org)
  • exposure
  • The aim is to assess in hospital nurses preparing and/or administering therapy to cancer patients the current level of occupational exposure to antineoplastic drugs, DNA and chromosome damage as cancer predictive effects, and the association between the two. (biomedcentral.com)
  • Statistical analysis will be performed to ascertain the association between occupational exposure to antineoplastic drugs and biomarkers of DNA and chromosome damage, after taking into account the effects of individual genetic susceptibility, and the presence of confounding exposures. (biomedcentral.com)
  • 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)
  • Human
  • The effect of fluorine and lead ions on the chromosomes of human leucocytes in vitro. (fluoridealert.org)
  • For example, one research paper studied chromosome damaging effect of betel leaf in human leukocyte cultures. (wikipedia.org)
  • The pericentric chromosome inversion inv(16)(p13q22) creates the CBFB-MYH11 fusion gene, which encodes the CBFβ-SMMHC fusion protein The inv(16) is present in all M4Eo subtype AML, representing one of the most common change in AML, and accounting for ~12% of de novo human AML. (wikipedia.org)
  • CCNF gene has 17 exons and is located at position 16p13.3 on the human chromosome. (wikipedia.org)
  • gene
  • For example, the SRY gene on the Y chromosome encodes the transcription factor TDF and is vital for male sex determination during development. (wikipedia.org)
  • The chromosome translocation t(8;21)(q22;q22) creates the RUNX1-ETO fusion gene, which is expressed in FAB subtype M2 AML samples. (wikipedia.org)
  • nucleus
  • This results in parts of the chromatids or chromosomes being broken off and enveloped as an extra nucleus in one of the daughter cells. (wikipedia.org)
  • rearrangements
  • The "core binding factor AML" (CBF AML) [WHO classification] is the most common group of AML, including groups with the chromosome rearrangements inv(16)(p13q22) and t(8;21)(q22;q22). (wikipedia.org)
  • different
  • The small but consistent differences between the two cities may be due either to different scoring efficiency of aberrations in the two laboratories or to differential errors in DS86 dose assignments. (rerf.jp)
  • occurs
  • FA occurs in about one per 130,000 births, with a higher frequency in Ashkenazi Jews in Israel and Afrikaners in South Africa. (wikipedia.org)
  • humans
  • For example, humans have a diploid genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). (wikipedia.org)
  • lymphoid
  • Similarly, in adult hematopoiesis, CBF regulates the frequency and differentiation of HSCs, lymphoid and myeloid progenitors, establishing CBF as a master regulator of hematopoietic homeostasis. (wikipedia.org)