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
Chapter17: Drugs And Dissection
Section: Chapter Questions
Problem 12WS
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Hello, the question is on the image I sent. Thanks.
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
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%3B
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XX/XY
PATIENT
HISTORIES
INTRODUCTION
PATIENT C
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
Expert Solution
Step 1
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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