Karyotyping Activity

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Bishop State Community College *

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103

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Biology

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Jan 9, 2024

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Karyotyping Activity Patient A's Karyotype Congratulations! You successfully completed Patient A's Karyotype. Next, interpret the kary Karyotyping Activity Patient A's Karyotype Congratulations! You successfully completed Patient A's Karyotype. Next, interpret the karyotype and make a diagnosis. Patient A's completed karyotype is at the bottom of the page for reference. On a separate piece of paper, answer the following 2 questions. Interpreting the karyotype Lab technicians compile karyotypes and then use a specific notation to characterize the karyotype. This notation includes the total number of chromosomes, the sex chromosomes, and any extra or missing autosomal chromosomes. For example, 47, XY, +18 indicates that the patient has 47 chromosomes, is a male, and has an extra autosomal chromosome 18. 46, XX is a female with a normal number of chromosomes. 47, XXY is a patient with an extra sex chromosome. A 1. What notation would you use to characterize Patient A's karyotype? Making a diagnosis The next step is to either diagnose or rule out a chromosomal abnormality. In a patient with a normal number of chromosomes, each pair will have only two chromosomes. Having an extra or missing chromosome usually renders a fetus inviable. In cases where the fetus makes it to term, there are unique clinical features depending on which chromosome is affected. Listed below are some syndromes caused by an abnormal number of chromosomes. A 2. What diagnosis would you give patient A? Dia gn Ch ro Nor mal pat ien Klin efel one or Do wn' Tris om Tris om ext ra
osi s mo so ma l Ab no rm ali ty # of chr om oso me s t's pro ble ms are due to so me thi ng oth er tha n an abn or mal nu mb er of chr om oso me s. ter' s Syn dro me mo re ext ra sex chr om oso me s (i.e ., XX Y) s Syn dro me y 21, ext ra chr om oso me 21 y 13 Syn dro me chr om oso me 13 otype and make a diagnosis. Patient A's completed karyotype is at the bottom of the page for reference. On a separate piece of paper, answer the following 2 questions. Interpreting the karyotype Lab technicians compile karyotypes and then use a specific notation to characterize the karyotype. This notation includes the total number of chromosomes, the sex chromosomes, and any extra or missing autosomal chromosomes. For example, 47, XY, +18 indicates that the patient has 47 chromosomes, is a male, and has an extra autosomal chromosome 18. 46, XX is a female with a normal number of chromosomes. 47, XXY is a patient with an extra sex chromosome. A 1. What notation would you use to characterize Patient A's karyotype?
Making a diagnosis The next step is to either diagnose or rule out a chromosomal abnormality. In a patient with a normal number of chromosomes, each pair will have only two chromosomes. Having an extra or missing chromosome usually renders a fetus inviable. In cases where the fetus makes it to term, there are unique clinical features depending on which chromosome is affected. Listed below are some syndromes caused by an abnormal number of chromosomes. A 2. What diagnosis would you give patient A? Diagnosis Chromosomal Abnormality Normal # of chromosomes patient's problems are due to something other than an abnormal number of chromosomes. Klinefelter's Syndrome one or more extra sex chromosomes (i.e., XXY) Down's Syndrome Trisomy 21, extra chromosome 21 Trisomy 13 Syndrome extra chromosome 13
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