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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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How many total chromosomes were on your karyotype sheets?

How many of the chromosomes are autosomes?

Is this child a male or a female? How do you know?

Does this child appear to have a genetic disorder? If so, what genetic disorder does this child have?

### Human Karyotype

The image presented is a standard human karyotype. A karyotype is a complete set of chromosomes in an organism, displayed in a systematic arrangement. Here's a detailed breakdown:

1. **Chromosome Pairs:**
   - The karyotype consists of 23 pairs of chromosomes, totaling 46 chromosomes. Chromosomes are paired and numbered from 1 to 22, with an additional pair labeled as X and Y, which are the sex chromosomes.
     
2. **Autosomes:**
   - The first 22 pairs are autosomes and are numbered according to their size in decreasing order. For instance:
     - Chromosome pair 1, being the largest.
     - Chromosome pair 22, being one of the smallest.

3. **Sex Chromosomes:**
   - The 23rd pair represents the sex chromosomes.
     - The X chromosome is significantly larger.
     - The Y chromosome is smaller.
   - The combination of these chromosomes determines the sex of the individual. Typically, females have two X chromosomes (XX) and males have one X and one Y chromosome (XY).

4. **Banding Patterns:**
   - Each chromosome exhibits a distinct banding pattern, which is crucial for identifying and distinguishing individual chromosomes. The bands arise from staining techniques used during chromosome preparation.

5. **Clinical and Research Importance:**
   - Karyotyping is essential in clinical genetics for diagnosing genetic disorders. Abnormalities, such as trisomies or monosomies, can be detected through karyotype analysis.
   - It is also crucial in research for understanding chromosome structure, function, and evolution.

This karyotype is typically obtained from a sample of blood, bone marrow, amniotic fluid, or other tissues that can be cultured to yield dividing cells. The image provides a clear visual aid for learning about chromosome structure and the systematic arrangement used in genetics and cytogenetics.
Transcribed Image Text:### Human Karyotype The image presented is a standard human karyotype. A karyotype is a complete set of chromosomes in an organism, displayed in a systematic arrangement. Here's a detailed breakdown: 1. **Chromosome Pairs:** - The karyotype consists of 23 pairs of chromosomes, totaling 46 chromosomes. Chromosomes are paired and numbered from 1 to 22, with an additional pair labeled as X and Y, which are the sex chromosomes. 2. **Autosomes:** - The first 22 pairs are autosomes and are numbered according to their size in decreasing order. For instance: - Chromosome pair 1, being the largest. - Chromosome pair 22, being one of the smallest. 3. **Sex Chromosomes:** - The 23rd pair represents the sex chromosomes. - The X chromosome is significantly larger. - The Y chromosome is smaller. - The combination of these chromosomes determines the sex of the individual. Typically, females have two X chromosomes (XX) and males have one X and one Y chromosome (XY). 4. **Banding Patterns:** - Each chromosome exhibits a distinct banding pattern, which is crucial for identifying and distinguishing individual chromosomes. The bands arise from staining techniques used during chromosome preparation. 5. **Clinical and Research Importance:** - Karyotyping is essential in clinical genetics for diagnosing genetic disorders. Abnormalities, such as trisomies or monosomies, can be detected through karyotype analysis. - It is also crucial in research for understanding chromosome structure, function, and evolution. This karyotype is typically obtained from a sample of blood, bone marrow, amniotic fluid, or other tissues that can be cultured to yield dividing cells. The image provides a clear visual aid for learning about chromosome structure and the systematic arrangement used in genetics and cytogenetics.
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