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Thursday, May 14, 2020 | History

3 edition of Congenital chromosome aberrations and tumour predisposition found in the catalog.

Congenital chromosome aberrations and tumour predisposition

Fekete, GyoМ€rgy M.D.

Congenital chromosome aberrations and tumour predisposition

by Fekete, GyoМ€rgy M.D.

  • 8 Want to read
  • 18 Currently reading

Published by Adadémiai Kiadó in Budapest .
Written in English

    Subjects:
  • Cancer -- Genetic aspects.,
  • Oncogenes.,
  • Tumors in children.,
  • Human chromosome abnormalities.,
  • Genetic counseling.

  • Edition Notes

    StatementGyörgy Fekete.
    Classifications
    LC ClassificationsRC268.4 .F43 1990
    The Physical Object
    Paginationxvi, 161 p. :
    Number of Pages161
    ID Numbers
    Open LibraryOL1634674M
    ISBN 109630557533
    LC Control Number91185312

    The book is intended to fulfill the needs of undergraduate and post graduate students of botany, zoology and agriculture besides, teachers and researchers engaged in the field of genetics, cytogenetics, and molecular genetics. In general the readers will find each chapter of the book . Researchers led by Dana-Farber’s David Pellman, MD, have shown that aneuploidy can generate not only abnormal chromosome number but also massive chromosome rearrangement. This sudden, isolated shuffling of genetic material, known as chromothripsis, is a major driver of the abnormal genomic architecture of cancer – occurring in 65 percent of.

    There are two types of chromosomal aberrations: (a) Changes in the number of chromosomes: Aneuploidy and euploidy (b) Changes in structure of chromosome: deficiency (deletion), duplication, inversion and translocation. Change in Chromosome Number. In some case, number of chromosome in an affected person can are increased or decreased. Following.   INHERITANCE OF GENETIC DISEASES DUE TO CHROMOSOMAL ABERRATIONS INTRODUCTION: Heredity plays a part in almost all diseases. Recent advances in gene research have allowed a steadily increasing number of specific genes and genetic factors to be linked to a wide variety of medical : Picesgirl.

    The chromosomal aberrations based on the structure of the chromosome are of four types – deletion, duplication, inversion and transversion. Structural chromosomal aberrations Deletion – Structural chromosomal aberrations. The loss of a segment of the genetic material in a chromosome is called deletion. It may be terminal or intercalary. This atlas presents the results of cases of structural chromosome aberrations based on the currently available methods of analysis for different types of abnormality. It particularly focuses on which spectrum should be chosen when combining the different techniques to achieve the best method of.


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Congenital chromosome aberrations and tumour predisposition by Fekete, GyoМ€rgy M.D. Download PDF EPUB FB2

Full text Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (K), or click on a page image below to browse page by by: 2.

Author(s): Fekete,György,M.D. Title(s): Congenital chromosome aberrations and tumour predisposition/ György Fekete. Country of Publication: Hungary Publisher.

Chromosomal disorder, any syndrome characterized by malformations or malfunctions in any of the body’s systems, and caused by abnormal chromosome number or constitution.

Normally, humans have 46 chromosomes arranged in 23 pairs; the pairs vary in size and shape and are numbered by convention. Congenital Chromosome Aberrations and Tumour Predisposition. Gyorgy Fekete. (Pp ;,) Budapest: Akade-miai Kiado.

In this book, the Hungarian author reviews Congenital chromosome aberrations and tumour predisposition book of the clinical and scientific publica-tions, published uptoconcerning the association between genetic factors and malignant disease, with particular emphasisCited by: BOOK REVIEWS All titles reviewed here are available from the BMJ Bookshop, PO BoxLondon WC1H 9TE.

Prices include postage in the UK and for members of the British Forces Overseas, but overseas customers should add 15% to the value of the order for postage and packing.

Payment can be made by cheque in sterling drawn on a UK bank, or by. Numerical disorders. This is called aneuploidy (an abnormal number of chromosomes), and occurs when an individual either is missing a chromosome from a pair (monosomy) or has more than two chromosomes of a pair (trisomy, tetrasomy, etc.).

An example of trisomy in humans is Down syndrome, which is a developmental disorder caused by an extra copy of chromosome 21; the disorder is. Lung cancers commonly have structural chromosome aberrations and aneuploidy, with many of them associated with carcinogenesis.

Gene amplification is a common mechanism of oncogenic activation in nonsmall cell lung cancer (NSCLC) involving genes such as MYC, EGFR, ERBB2, MET, PIK3CA, and FGFR1.

Gene amplification is also associated with resistance to drugs, for instance, to epidermal. 4 Major Types of Chromosomal Aberrations ( Words) Some of the major types of Chromosomal aberrations are as follows: The arrangement and presence of many genes on a single chromosome provides a change in genetic information not only through change in chromosome number but also by a change in chromosome structure.

Chromosome Aberrations - Science topic Abnormal number or structure of chromosomes. Many chromosome aberrations, but not all, are the cause of CHROMOSOME DISORDERS. Cancer may be defined as a progressive series of genetic events that occur in a single clone of cells because of alterations in a limited number of specific genes: the oncogenes and tumor suppressor genes.

The association of consistent chromosome aberrations with particular types of cancer has led to the identification of some of these genes and the elucidation of their mechanisms of by: Mortality is increased in all major sex-chromosome abnormalities (31,33,34,38–43), with hazard rates (or standardized mortality rates) ranging from to for KS, to XXX, to XYY and to for TS (Figure ).The specific causes for the increased mortality rates are described below.

Rates of morbidity have been studied in TS and KS and have been found. A chromosomal aberration is an abnormality in the structure or number of chromosomes in an organism.

Depending on the nature of the aberration, it can lead to severe birth defects, potentially including defects incompatible with somal aberrations can be diagnosed with the use of a karyotype, a visualization of an organism's complete set of chromosomes, where functional changes in.

In the structural chromosomal aberrations, 5 cases had the inversions in chromosome 2, 7, 17, and Y. Chromosomal deletions in 6 cases and additions in 4 cases were analysed. The role of chromosome aberrations in evolution and human health is well recognized.

Rating: (not Ritter S --Chromosome aberrations induced by high-LET carbon ions in radiosensitive and radioresistant tumour cells / Virsik --Transgenerational transmission of radiation- and chemically induced tumors and congenital anomalies in. Chromosome aberration Any numerical or structural change in the usual chromosome complement of a cell or organism.

Heteroploidy Numerical changes (heteroploidy) are of two types, polyploidy and aneuploidy. Polyploidy is a change in the number of chromosome sets.

Triploidy (3n), for example, occurs in about 1% of human pregnancies, but it is almost. Chromosome fusion and inversion in human evolution - Due to banding homolgies with chromosomes in chimpanzees and gorillas.-This is the case of human chromosome 2-Result of translocation.

- Also comparing chimp and human chromsome 4 thought that was a chromosome inversion. Polyploidy and inversions associated with speciation in plants.

Chromosome Aberrations Subject Areas on Research. of pregnancies, with abnormal chromosomes, 50 resulting in live births (8% pregnancies with aberrations, % result in live birth). Of those live births, 5% or 10/50 trisomy 21 (numeric), 15/50 sex chromosome aberrations (numeric), 4/50 unbalanced while 16/50 are balanced.

The Causes and Consequences of Chromosomal Aberrations explores one of the most dramatic examples of genomic instability-chromosomal aberrations.

It describes some of the more recent techniques used to map genes within the human genome, study chromosomal aberrations at the cellular level, and define the organization of the interphase nucleus. chromosome aberration: any deviation from the normal number or morphology of chromosomes; also the phenotypic consequences thereof.

[18], human chromosome 1 contains a DNA molecule of cm length which in interphase is packed in a fibrillar structure of m. In metaphase, chromo-some 1 is about 10 m long. These packaging prob-lems are mainly solved by proteins of various types [20,21].

Due to their enormous dimensions, DNA molecules in chromosomes are permanent targets of.Chromosome aberrations are departures from the normal set of chromosomes either for an individual or from a species. They can refer to changes in the number of sets of chromosomes (ploidy), changes in the number of individual chromosomes (somy), or changes in appearance of individual chromosomes through mutation-induced rearrangements.Changes in chromosome numbers (polyploidy, aneuploidy, hypoploid, hyperploid) and changes in chromosomal structure (deficiency, deletion, inversion, translocation, transposition).

Many chromosomal aberrations involve human disease.