Examples of Chromosomal Mutation Syndromes in Humans (High School Level)

📚 Quick Study Guide

• 🧬 Chromosomal mutations are changes in the structure or number of chromosomes.
• 🔢 Numerical mutations involve changes in the number of chromosomes (e.g., aneuploidy).
• 🧩 Structural mutations involve alterations in the structure of a chromosome (e.g., deletions, duplications, translocations).
• 👧🏽 Down Syndrome (Trisomy 21): An extra copy of chromosome 21.
• 🚺 Turner Syndrome: Females with only one X chromosome (XO).
• 👨🏻‍🦰 Klinefelter Syndrome: Males with an extra X chromosome (XXY).
• 🗣️ Cri du Chat Syndrome: Deletion on the short arm of chromosome 5.

🧪 Practice Quiz

1. Which of the following is an example of a numerical chromosomal mutation?
   1. Down Syndrome
   2. Cri du Chat Syndrome
   3. Sickle Cell Anemia
   4. Cystic Fibrosis
2. Turner Syndrome is characterized by which chromosomal abnormality?
   1. XXY
   2. XO
   3. Trisomy 21
   4. Deletion on chromosome 5
3. Klinefelter Syndrome affects individuals with which sex chromosomes?
   1. XO
   2. XY
   3. XXY
   4. XXX
4. Cri du Chat Syndrome is caused by a:
   1. Trisomy of chromosome 21
   2. Deletion on chromosome 5
   3. Duplication on chromosome 15
   4. Translocation between chromosome 9 and 22
5. Which syndrome is associated with an extra copy of chromosome 21?
   1. Turner Syndrome
   2. Klinefelter Syndrome
   3. Down Syndrome
   4. Cri du Chat Syndrome
6. A female presents with short stature and infertility. Which syndrome is most likely?
   1. Klinefelter Syndrome
   2. Down Syndrome
   3. Turner Syndrome
   4. Cri du Chat Syndrome
7. Which type of mutation involves the transfer of a part of one chromosome to another?
   1. Deletion
   2. Duplication
   3. Inversion
   4. Translocation