Abnormal chromosomal

Double-strand breaks (DSBs) result from the attack of both DNA strands by multiple sources, including radiation and chemicals. DSBs can cause the abnormal chromosomal rearrangements associated with cancer. Recent techniques allow the genome-wide mapping of DSBs at high resolution, enabling the comprehensive study of their origins.

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Tham khảo luận văn - đề án 'báo cáo y học: " four small supernumerary marker chromosomes derived from chromosomes 6, 8, 11 and 12 in a patient with minimal clinical abnormalities: a case report"', luận văn - báo cáo phục vụ nhu cầu học tập, nghiên cứu và làm việc hiệu quả

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Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Four small supernumerary marker chromosomes derived from chromosomes 6, 8, 11 and 12 in a patient with minimal clinical abnormalities: a case report...

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Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài:Ring chromosome 18 abnormality in acute myelogenous leukemia: the clinical dilemma

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Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Chromosome abnormalities in embryos from lines of Japanese quail divergently selected for body weight Vera D. WOLOWODIUK

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The etiology of PV is unknown. Although nonrandom chromosome abnormalities such as 20q, trisomy 8, and especially 9p, have been documented in up to 30% of untreated PV patients, unlike CML no consistent cytogenetic abnormality has been associated with the disorder. However, a mutation in the autoinhibitory, pseudokinase domain of the tyrosine kinase JAK2—which replaces valine with phenylalanine (V617F), causing constitutive activation of the kinase— appears to have a central role in the pathogenesis of PV.

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Chromosomal Instability in Solid Tumors Solid tumors are generally highly aneuploid, containing an abnormal number of chromosomes; these chromosomes also exhibit structural alterations such as translocations, deletions, and amplifications. Again, colon cancer has proven to be a particularly useful model for the study of chromosomal instability (CIN). As described above, some familial cases are characterized by the presence of MIN.

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Familial adenomatous polyposis (FAP) is a dominantly inherited colon cancer syndrome due to germline mutations in the adenomatous polyposis coli (APC) tumor-suppressor gene on chromosome 5. Patients with this syndrome develop hundreds to thousands of adenomas in the colon. Each of these adenomas has lost the normal remaining allele of APC but has not yet accumulated the required additional mutations to generate fully malignant cells (Fig. 79-2).

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Harrison's Internal Medicine Chapter 64. The Practice of Genetics in Clinical Medicine Implications of Molecular Genetics for Internal Medicine The field of medical genetics has traditionally focused on chromosomal abnormalities (Chap. 63) and Mendelian disorders (Chap. 62). However, there is genetic susceptibility to many common adult-onset diseases, including atherosclerosis, cardiac disorders, asthma, hypertension, autoimmune diseases, diabetes mellitus, macular degeneration, Alzheimer's disease, psychiatric disorders, and many forms of cancer.

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Deletions involving the long arm of chromosome 22 (22q11) are the most common microdeletions identified to date, present in ~1/3000 newborns. VCF syndrome, the most commonly associated syndrome, consists of learning disabilities or mild mental retardation, palatal defects, a hypoplastic aloe nasi and long nose, and congenital heart defects (conotruncal defect).

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Cytogenetic Testing in Prenatal Diagnosis The vast majority of prenatal diagnostic studies are performed to rule out a chromosomal abnormality, but cells may also be propagated for biochemical studies or molecular analyses of DNA. Three procedures are used to obtain samples for prenatal diagnosis: amniocentesis, chorionic villus sampling (CVS), and fetal blood sampling. Amniocentesis is the most common procedure and is routinely performed at 15–17 weeks of gestation.

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