Medical Genetics Chapter 5 Principles of Clinical Cytogenetics 1 This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information
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Medical Genetics Outline ◆Review; ◆Introduction; Chromosome abnormalities; Parent-of-origin effects; Studies of chromosomes in human meiosis; Mendelian disorders with cytogenetic effects; Cytogenetic analysis in cancer. This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information
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1.Review:Human chromosome chromosome disorders 1.1Morphology of Human chromosome ●Chromatid Telomeres Satellite ●Centromere Distal Secondary constriction (primary constriction) Arm ●Short arm=p Proximal ●Long arm=q Chromatid Centromere ●Satellite Secondary constriction Arm ●Telomere Telomeres This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information
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Medical Genetics 1.2 Three kinds of human chromosome Metacentric chromosome Submetacentric chromosome Acrocentric chromosome Metacentric Submetacentric Acrocentric Short arm p Sak、 Satellite Centromere Long arm q 18 21 2 Elsevier.Jorde et al.:Medical Genetics 3e-www.studentconsult.com This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information
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Medical Genetics 1.3 Karyotype karyotyping Karyotype:The particular chromosome complement within a single cell of an individual arranged according to standard classification as defined both the number and morphology of the chromosome in mitotic metaphase. Karyotyping:a laboratory technique used to analyze chromosomes(from single cells)in order to look for any major chromosomal anomaly which may cause a genetic condition. 5 This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information
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