Genetic Diseases

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1. Identify the syndrome characterized by an extra chromosome 21.

Explanation

Down syndrome is caused by the presence of an extra copy of chromosome 21. Turner syndrome is caused by complete or partial absence of one of the X chromosomes. Klinefelter syndrome is characterized by the presence of an extra X chromosome in males. Williams syndrome is a genetic condition characterized by developmental delays, learning disabilities, and unique facial features.

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About This Quiz
Genetic Diseases - Quiz

Explore the world of genetic disorders through engaging flashcards. Each card presents an image, challenging learners to identify the associated disorder, enhancing their understanding of genetics and its... see moreimpact on health. Ideal for students and professionals in biology and health education. see less

2. What syndrome is characterized by developmental delays, speech impairments, and a happy demeanor?

Explanation

Angelman syndrome is a genetic disorder that affects the nervous system, resulting in developmental delays, speech impairments, and a happy and excitable demeanor. Down syndrome, Williams syndrome, and Rett syndrome are different genetic disorders with their own unique characteristics and symptoms.

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3. Identify the syndrome characterized by a high-pitched cry resembling that of a cat.

Explanation

Cri du Chat syndrome is named after the high-pitched cry resembling that of a cat, which is a distinctive feature of this genetic disorder. Down syndrome, Turner syndrome, and Prader-Willi syndrome are other genetic disorders with different characteristics and symptoms.

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4. Identify the syndrome characterized by intellectual disability, compulsive overeating leading to obesity, and short stature.

Explanation

Prader Willi syndrome is a genetic disorder characterized by intellectual disability, compulsive overeating, and short stature. Down syndrome is a genetic disorder caused by an extra copy of chromosome 21, leading to intellectual disability and characteristic facial features. Turner syndrome is a genetic disorder affecting females, characterized by short stature and lack of ovarian development. Cushing syndrome is a hormonal disorder caused by prolonged exposure to high levels of cortisol, leading to obesity, muscle weakness, and other symptoms.

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5. Identify the genetic disorder characterized by the absence of all or part of one of the X chromosomes.

Explanation

Turner syndrome is a genetic condition that only affects females and results from the complete or partial absence of one of the two X chromosomes. Down syndrome is caused by an extra copy of chromosome 21, Klinefelter syndrome involves an extra X chromosome in males, and Fragile X syndrome is a genetic condition caused by a mutation in the FMR1 gene on the X chromosome.

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6. Identify the syndrome known as Beckwith-Wiedemann syndrome.

Explanation

Beckwith-Wiedemann syndrome is a genetic disorder with a wide range of symptoms and varying degrees of severity. It is characterized by overgrowth and an increased risk of developing certain childhood cancers. Down syndrome, Turner syndrome, and Klinefelter syndrome are different genetic disorders with distinct features and causes.

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7. Identify the syndrome characterized by disproportionately short stature and limb abnormalities.

Explanation

Achondroplasia is a genetic disorder that results in dwarfism due to impaired bone growth, specifically in the long bones of the arms and legs. It is the most common form of short-limb dwarfism.

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8. What syndrome is associated with PTEN gene mutations?

Explanation

Cowden syndrome is a rare genetic disorder linked to mutations in the PTEN gene, which is involved in regulating cell growth and division. Turner syndrome, Down syndrome, and Marfan syndrome are caused by different genetic abnormalities and have distinct clinical features and associated health risks.

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9. What is the name of the syndrome?

Explanation

Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones, resulting in facial deformities. Down syndrome is caused by an extra copy of chromosome 21. Turner syndrome is a genetic condition that only affects females, causing short stature and infertility. Marfan syndrome is a genetic disorder that affects the body's connective tissue.

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10. What syndrome is also known as DiGeorge syndrome?

Explanation

DiGeorge syndrome is a genetic disorder caused by the deletion of a small segment of chromosome 22. It is characterized by congenital heart defects, developmental delay, a weakened immune system, and specific facial features.

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Identify the syndrome characterized by an extra chromosome 21.
What syndrome is characterized by developmental delays, speech...
Identify the syndrome characterized by a high-pitched cry resembling...
Identify the syndrome characterized by intellectual disability,...
Identify the genetic disorder characterized by the absence of all or...
Identify the syndrome known as Beckwith-Wiedemann syndrome.
Identify the syndrome characterized by disproportionately short...
What syndrome is associated with PTEN gene mutations?
What is the name of the syndrome?
What syndrome is also known as DiGeorge syndrome?
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