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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. B 1. What notation would you use to characterize Patient B'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. B 2. What diagnosis would you give patient B? Chromosomal Abnormality patient's problems are due to something other than an abnormal number of chromosomes. Diagnosis Normal # of chromosomes Klinefelter's Syndrome Down's Syndrome Trisomy 13 Syndrome one or more extra sex chromosomes (i.e., XXY) Trisomy 21, extra chromosome 21 extra chromosome 13

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. B 1. What notation would you use to characterize Patient B'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. B 2. What diagnosis would you give patient B? Chromosomal Abnormality patient's problems are due to something other than an abnormal number of chromosomes. Diagnosis Normal # of chromosomes Klinefelter's Syndrome Down's Syndrome Trisomy 13 Syndrome one or more extra sex chromosomes (i.e., XXY) Trisomy 21, extra chromosome 21 extra chromosome 13

Human Anatomy & Physiology (11th Edition)
Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
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Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...
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Patient B's History Patient B is a 28 year old male who is trying to identify a cause for his infertility. Chromosomes were obtained from nucleated cells in the patient's blood. Patient B's Karyotype 1 5 7 8 10 11 12 13 14 15 16 17 18 %3B 19 20 21 22 XX/XY PATIENT HISTORIES INTRODUCTION PATIENT C
Transcribed Image Text:Patient B's History Patient B is a 28 year old male who is trying to identify a cause for his infertility. Chromosomes were obtained from nucleated cells in the patient's blood. Patient B's Karyotype 1 5 7 8 10 11 12 13 14 15 16 17 18 %3B 19 20 21 22 XX/XY PATIENT HISTORIES INTRODUCTION PATIENT C
Karyotyping Activity Patient B's Karyotype Congratulations! You successfully completed Patient B's Karyotype. Next, interpret the karyotype and make a diagnosis. Patient B'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. B 1. What notation would you use to characterize Patient B'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. B 2. What diagnosis would you give patient B? Chromosomal Abnormality patient's problems are due to something other than an abnormal number of chromosomes. Diagnosis Normal # of chromosomes Klinefelter's Syndrome Down's Syndrome Trisomy 13 Syndrome one or more extra sex chromosomes |(i.e., XXY) Trisomy 21, extra chromosome 21 extra chromosome 13
Transcribed Image Text:Karyotyping Activity Patient B's Karyotype Congratulations! You successfully completed Patient B's Karyotype. Next, interpret the karyotype and make a diagnosis. Patient B'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. B 1. What notation would you use to characterize Patient B'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. B 2. What diagnosis would you give patient B? Chromosomal Abnormality patient's problems are due to something other than an abnormal number of chromosomes. Diagnosis Normal # of chromosomes Klinefelter's Syndrome Down's Syndrome Trisomy 13 Syndrome one or more extra sex chromosomes |(i.e., XXY) Trisomy 21, extra chromosome 21 extra chromosome 13
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Karyotyping refers to the photographic arrangement of the complete set of individual's chromosome in a particular order either in ascending or descending. This helps to examine the chromosomes and identify the root cause of any genetic problems.

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