Biochemistry 4463G Chapter Notes - Chapter 5: Giemsa Stain, Klinefelter Syndrome, Elastin
23 Jan 2018
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Chapter 5: principles of clinical cytogenetics and genome analysis. The first method to study chromosomes, were using cytogenetics and chromosome banding patterns this was the first widely used whole genome analytical tool for research and clinical diagnosis. The problem with these techniques were that they had very low resolution analysis could only be performed at the chromosome level, which provided no information regarding potential imbalance or gene translocation. Detecting abnormal chromosome copy numbers (i. e. aneuploidy resulting from nondisjunction events during meiosis or mitosis) Identifying family history, developmental and intellectual disabilities (i. e. fragile x-syndrome) Pregnancy risks, fertility problems, stillbirths and neonatal death. *size ranges are misleading: 50-250,000 means 50,000 to 250,000. Cytogenetics focused on complete sets of genetic material. Abnormalities in cytogenetics were found in nearly 2% of pregnancies in women >35 years of age, and in half of all recognized spontaneous first- trimester abortions. To perform cytogenetics, the cells in the tissue must: Be viable at the time of collection.
