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
Section: Chapter Questions
Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...
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Transcribed Image Text:Patient C's History
Patient C died shortly after birth, with a multitude of anomalies, including polydactyly and a
cleft lip. Chromosomes were obtained from a tissue sample.
Patient C's Karyotype
1
2
3
%3D
7
8.
10
11
12
13
14
15
16
17
18
19
20
21
22
XX/XY
Transcribed Image Text:Karyotyping Activity
Patient C's Karyotype
Congratulations! You successfully completed Patient C's
Karyotype. Next, interpret the karyotype and make a diagnosis.
Patient C'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 chr
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.
hosomes, is a
C 1. What notation would you use to characterize
Patient C'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.
C 2. What diagnosis would you give patient C?
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
A karyotype is an individual's collection of chromosomes. Karyotyping is a test to examine chromosomes in a sample of cells. This test can help identify genetic problems as the cause of a disorder or disease.
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