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    Cytogenetic analysis: Is there a need to discover greater detail in the karyotype?

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    azu_td_1345621_sip1_m.pdf
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    Author
    Shen, Wei-ping, 1958-
    Issue Date
    1991
    Keywords
    Biology, Genetics.
    Biology, Cell.
    Health Sciences, Obstetrics and Gynecology.
    Advisor
    Hoyme, H. Eugene
    
    Metadata
    Show full item record
    Publisher
    The University of Arizona.
    Rights
    Copyright © is held by the author. Digital access to this material is made possible by the University Libraries, University of Arizona. Further transmission, reproduction or presentation (such as public display or performance) of protected items is prohibited except with permission of the author.
    Abstract
    Chromosome studies are mandatory to confirm the diagnosis in even "typical" cases of genetic or malformation syndromes, since the phenotype does not unambiguously define the genotype. With the inception of banding methods to facilitate the unequivocal identification of chromosomes, major interest has been devoted to obtaining prometaphase chromosomes, since they allow for greater detail with a larger number of bands. The purpose of this study is to define in which circumstances prometaphase chromosome analysis is most useful and the minimum band level required for such high resolution detail in the karyotype. Karyotypes of 4 amniotic fluid samples and 14 prepheral blood specimens were prepared and studied at a range of band levels. The 18 cases were selected because of the presence of a variety of chromosomal anomalies. The results revealed that in most cases, a structural anomaly of a single chromosome could be surmised at banding level of 400-500. However, banding levels of 650-850 allowed for more clear delineation of the exact anomaly and accurate assignment of break points.
    Type
    text
    Thesis-Reproduction (electronic)
    Degree Name
    M.S.
    Degree Level
    masters
    Degree Program
    Graduate College
    Genetics
    Degree Grantor
    University of Arizona
    Collections
    Master's Theses

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