Podcast
Questions and Answers
Which of the following syndromes is characterized by an extra copy of chromosome 21?
Which of the following syndromes is characterized by an extra copy of chromosome 21?
- Down Syndrome (correct)
- Klinefelter Syndrome
- Turner Syndrome
- Edwards Syndrome
A patient presents with a 45, XO karyotype. Which syndrome is most likely?
A patient presents with a 45, XO karyotype. Which syndrome is most likely?
- Klinefelter Syndrome
- Triple X Syndrome
- Patau Syndrome
- Turner Syndrome (correct)
Which chromosomal abnormality is classified as a trisomy of an autosome?
Which chromosomal abnormality is classified as a trisomy of an autosome?
- Triple X Syndrome
- Turner Syndrome
- Klinefelter Syndrome
- Edwards Syndrome (correct)
Which condition is characterized by a 47, XXY karyotype?
Which condition is characterized by a 47, XXY karyotype?
Which of the following syndromes is due to a monosomy?
Which of the following syndromes is due to a monosomy?
Flashcards
Down Syndrome
Down Syndrome
A genetic disorder caused by an extra copy of chromosome 21. It is characterized by physical features such as a flattened face, single crease across the palm of the hand, and intellectual disability.
Edwards Syndrome
Edwards Syndrome
A rare genetic disorder caused by an extra copy of chromosome 18. Infants with this syndrome often have severe heart defects, breathing problems, and developmental delays.
Patau Syndrome
Patau Syndrome
A rare genetic disorder caused by an extra copy of chromosome 13. Individuals with this syndrome usually have severe physical and brain abnormalities, leading to a shortened lifespan.
Klinefelter Syndrome
Klinefelter Syndrome
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Turner Syndrome
Turner Syndrome
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Study Notes
Important Syndromes Due to Numerical Chromosomal Abnormalities
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Trisomy of Autosomes: These syndromes result from an extra copy of an autosomal chromosome.
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Trisomy 21 (Down Syndrome): A condition caused by an extra copy of chromosome 21.
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Trisomy 18 (Edwards Syndrome): A severe syndrome due to an extra copy of chromosome 18.
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Trisomy 13 (Patau Syndrome): Characterized by an extra chromosome 13. Often results in severe health problems and is often associated with early death.
Trisomy of Sex Chromosomes
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Klinefelter Syndrome (47, XXY): A syndrome where males have an extra X chromosome. Causes reproductive and physical characteristics.
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Triple X Syndrome (47, XXX): Females have an extra X chromosome. The additional X typically doesn't cause significant physical changes.
Monosomy
- Turner Syndrome (45, XO): A sex chromosome disorder where females only have one X chromosome. This condition can affect physical development and reproductive capabilities.
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Description
This quiz covers various syndromes related to numerical chromosomal abnormalities. Explore conditions such as Down Syndrome, Edwards Syndrome, Klinefelter Syndrome, and Turner Syndrome. Test your understanding of how these syndromes impact physical development and health.
