Podcast
Questions and Answers
What is the result of a microdeletion on the maternal chromosome 15?
What is the result of a microdeletion on the maternal chromosome 15?
A child who cannot speak, has poor motor development, and experiences frequent, unprovoked laughter is MOST likely exhibiting symptoms of which condition?
A child who cannot speak, has poor motor development, and experiences frequent, unprovoked laughter is MOST likely exhibiting symptoms of which condition?
Which of the following is NOT typically associated with Prader-Willi syndrome?
Which of the following is NOT typically associated with Prader-Willi syndrome?
If a child presents with some hypotonia, obesity, mental retardation, hypogonadism, and cryptorchidism, what should clinicians suspect they have?
If a child presents with some hypotonia, obesity, mental retardation, hypogonadism, and cryptorchidism, what should clinicians suspect they have?
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What do Angelman and Prader-Willi syndromes have in common?
What do Angelman and Prader-Willi syndromes have in common?
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Study Notes
Microdeletion Syndrome
- Microdeletions can involve only a few contiguous genes.
- Microdeletion on the maternal chromosome 15 causes Angelman syndrome.
- Symptoms of Angelman syndrome include mental retardation, inability to speak, poor motor development, and frequent, unprovoked laughter.
- Microdeletion on the paternal chromosome 15 causes Prader-Willi syndrome.
- Prader-Willi syndrome is characterized by hypotonia, obesity, mental retardation, hypogonadism, and cryptorchidism.
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Description
This quiz delves into microdeletion syndromes, focusing on Angelman and Prader-Willi syndromes. Explore the genetic implications of microdeletions on chromosome 15 and their associated symptoms. Test your knowledge on the characteristics and effects of these rare genetic conditions.
