ABERRACIONES CROMOSOMICAS PDF

Perez Vera, Patricia. Conventional cytogenetics CC can be used to identify chromosomal abnormalities that are predictors of treatment outcome in acute lymphoblastic leukemia ALL. The detection of abnormalities in ALL is difficult because low mitotic index and poor-quality metaphases are obtained. Flow cytometry FC and fluorescence in situ hybridization FISH can be used to detect aneuploidy in any phase of the cell cycle, increasing the number of analyzable cells.

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Perez Vera, Patricia. Conventional cytogenetics CC can be used to identify chromosomal abnormalities that are predictors of treatment outcome in acute lymphoblastic leukemia ALL. The detection of abnormalities in ALL is difficult because low mitotic index and poor-quality metaphases are obtained. Flow cytometry FC and fluorescence in situ hybridization FISH can be used to detect aneuploidy in any phase of the cell cycle, increasing the number of analyzable cells.

The aim of this study was to develop a strategy combining these methods to improve the frequency of chromosome abnormality detection. One hundred children with newly diagnosed ALL were included. The numerical abnormalities identified by both methods were compared and patients were classified as concordant or discordant. FISH was used to support aneuploidy results in discrepant cases using centromeric probes for the chromosomes most frequently involved in aneuploidy.

Fourteen cases were discrepant: nine showed hypodiploidy and low hyperdiploidy by cytogenetics and five showed high hyperdiploidy by FC. FISH confirmed aneuploidy in 12 cases in which it could be performed. High hyperdiploidy was the most common abnormality; the 31 cases showing this aneuploidy were identified by FC.

The search for abnormalities must begin by measuring DNA content to detect this aneuploidy, which is useful to evaluate the patient's risk. However, it is important to screen for structural abnormalities by CC or molecular techniques. This strategy may detect chromosomal abnormalities, optimizing resources in laboratories where not all the screening methods are available.

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2002, Número 2

Cytogenetic analysis of blast cells in childhood acute lymphoblastic leukemia has led to the recognition of specific non-random chromosomal abnormalities with prognostic value. Most patients with ALL show karyotype abnormalities, either in chromosome number ploidy or as structural changes such as translocations, inversions, or deletions. Many of these chromosomal alterations are associated with specific cytomorphological and immunological types. The greatest impact on patient management has been the finding that the cytogenetic result is an independent prognostic indicator. Certain karyotypes are associated with a favorable prognosis while others indicate a poor outcome.

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Anomalías Cromosómicas

Introduction: The 3q29 microdeletion and microduplication syndromes are characterised by a marked phenotypic heterogeneity, and delayed development and a mild-moderate degree of intellectual disability are the most frequent clinical manifestations. Case reports: Two patients with reciprocal chromosomal aberrations in the 3q29 region. The patient with 3q29 microdeletion presented learning disabilities, borderline microcephaly, mild facial dysmorphism, attentional deficit and impulsiveness, and anxious and obsessive traits. The patient with reciprocal 3q29 microduplication presented learning disabilities, mild facial dysmorphism and a disruptive behavioural profile that was not previously associated with this duplication. Conclusions: The phenotypes of these patients are compared and the literature about paediatric patients with 3q29 microdeletions and microduplications is reviewed.

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Ionizing Radiation. En: Hayes W, editor. Principles and Methods of Toxicology. Third Edition. New York: Raven Press, Ltd; Graham JM Jr. Contribution of clinical teratologists and geneticists to the evaluation of the etiology of congenital malformations alleged to be caused by environmental agents: ionizing radiation, electromagnetic fields, microwaves, radionuclides, and ultrasound.

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