Important Syndromes: Chromosomal Abnormalities
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Questions and Answers

Which of the following syndromes is caused by an autosomal trisomy?

  • Klinefelter syndrome
  • Turner syndrome
  • Down syndrome (correct)
  • Triple X syndrome

A patient is diagnosed with 47, XXY karyotype. Which syndrome is this most likely?

  • Down syndrome
  • Turner syndrome
  • Patau syndrome
  • Klinefelter syndrome (correct)

Which condition is an example of a sex chromosome monosomy?

  • Triple X syndrome
  • Turner syndrome (correct)
  • Patau syndrome
  • Edwards syndrome

Which of these syndromes is characterized by a trisomy of sex chromosomes?

<p>Triple X syndrome (B)</p> Signup and view all the answers

What is the chromosomal abnormality associated with Edwards syndrome?

<p>Trisomy of chromosome 18 (C)</p> Signup and view all the answers

Flashcards

Down syndrome

A genetic disorder caused by an extra copy of chromosome 21. People with Down syndrome often have intellectual disability, characteristic facial features, heart defects, and other health concerns.

Edwards syndrome

A genetic disorder caused by an extra copy of chromosome 18. Individuals with Edwards syndrome often have severe intellectual disability, multiple physical abnormalities, and a short life expectancy.

Patau syndrome

A genetic disorder caused by an extra copy of chromosome 13. Individuals with Patau syndrome often have severe intellectual disability, multiple physical abnormalities, and a very short life expectancy.

Klinefelter syndrome

A genetic disorder caused by an extra X chromosome in males. People with Klinefelter syndrome often have taller than average stature, underdeveloped testes, and may have learning disabilities.

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Turner syndrome

A genetic disorder caused by a missing X chromosome in females. Individuals with Turner syndrome often have short stature, underdeveloped ovaries, and may have heart defects.

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Study Notes

Important Syndromes Due to Numerical Chromosomal Abnormalities

  • Trisomy of Autosomes:

    • Trisomy 21 (Down Syndrome)
    • Trisomy 18 (Edwards Syndrome)
    • Trisomy 13 (Patau Syndrome)
  • Trisomy of Sex Chromosomes:

    • Klinefelter Syndrome (47, XXY)
    • Triple X Syndrome (47, XXX)
  • Monosomy:

    • Turner Syndrome (45, XO)

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Description

Explore key syndromes resulting from numerical chromosomal abnormalities, including various trisomies such as Down Syndrome, Edwards Syndrome, and Patau Syndrome. Additionally, learn about Klinefelter, Triple X, and Turner Syndromes. This quiz covers essential genetic conditions that impact development and health.

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