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

Persistent Link:
http://hdl.handle.net/10150/291432
Title:
Cytogenetic analysis: Is there a need to discover greater detail in the karyotype?
Author:
Shen, Wei-ping, 1958-
Issue Date:
1991
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)
Keywords:
Biology, Genetics.; Biology, Cell.; Health Sciences, Obstetrics and Gynecology.
Degree Name:
M.S.
Degree Level:
masters
Degree Program:
Graduate College; Genetics
Degree Grantor:
University of Arizona
Advisor:
Hoyme, H. Eugene

Full metadata record

DC FieldValue Language
dc.language.isoen_USen_US
dc.titleCytogenetic analysis: Is there a need to discover greater detail in the karyotype?en_US
dc.creatorShen, Wei-ping, 1958-en_US
dc.contributor.authorShen, Wei-ping, 1958-en_US
dc.date.issued1991en_US
dc.publisherThe University of Arizona.en_US
dc.rightsCopyright © 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.en_US
dc.description.abstractChromosome 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.en_US
dc.typetexten_US
dc.typeThesis-Reproduction (electronic)en_US
dc.subjectBiology, Genetics.en_US
dc.subjectBiology, Cell.en_US
dc.subjectHealth Sciences, Obstetrics and Gynecology.en_US
thesis.degree.nameM.S.en_US
thesis.degree.levelmastersen_US
thesis.degree.disciplineGraduate Collegeen_US
thesis.degree.disciplineGeneticsen_US
thesis.degree.grantorUniversity of Arizonaen_US
dc.contributor.advisorHoyme, H. Eugeneen_US
dc.identifier.proquest1345621en_US
dc.identifier.bibrecord.b27056181en_US
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