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Chromosome Breakage Syndrome Cost 9000 Rs
Chromosome Breakage Syndrome Details
Frequently Asked Questions
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What is the cost of Chromosome Breakage Syndrome?
Cost of Chromosome Breakage Syndrome is 9000 Rs
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Chromosomal Breakage Syndrome
Chromosomal breakage syndromes are a group of genetic disorders that are typically transmitted in an autosomal recessive mode of inheritance. In culture, cells from affected individuals exhibit elevated rates of chromosomal breakage or instability, leading to chromosomal rearrangements.
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Chromosome Instability
Chromosome instability is a characteristic cytogenetic feature of a number of genetically determined human disorders collectively known as chromosome breakage syndromes. Included among the disorders are Bloom's syndrome (BS), Fanconi's anaemia (FA), ataxia-telangiectasia (AT).
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How are chromosome breaks repaired?
Unwanted chromosome breaks are considered the single most deleterious form of DNA damage to the cell. The two main pathways to repair of double-strand breaks, non-homologous end-joining (NHEJ) and DNA homology-mediated recombination repair (HRR or HR), are described elsewhere in much greater detail.
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Genetic causes
Ataxia-telangiectasia is caused by a single gene inherited as an autosomal recessive trait. Patients are usually compound heterozygotes, with different mutations in the 2 alleles of ATM. However, some ATM mutations, especially missense mutations, produce a dominant-negative effect (in which a mutation in only 1 of the 2 alleles of the gene results in the disease phenotype).
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Chromosome breakage syndromes and Cancer
There exist numerous genetic disorders, marked by chromosome instability, that is strikingly associated with various cancers. Both the chromosomal instabilities and neoplastic outcomes are related to abnormalities of DNA metabolism, DNA repair, cell-cycle governance, or control of apoptosis.
Among these diseases are ataxia-telangiectasia and Nijmegen breakage syndrome, with increased incidences of lymphomas. Bloom syndrome, Werner syndrome, and Rothmund-Thompson syndrome, each characterized by a DNA helicase defect, are associated with early incidences of different cancers.
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Pathophysiology
The disorder affects all bone marrow elements and is associated with cardiac, renal, GI, oral, ear, and limb malformations; dermal pigmentary changes; hypogonadism; and solid tumours.
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What is the cost of Chromosome Breakage Syndrome?
Chromosome Breakage Syndrome costs 9000 Rs
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How many days does it take for reports?
Reports will take 8-10 working days