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?
- Cryptorchidism
- Hypotonia and obesity
- Angelman syndrome (correct)
- Prader-Willi syndrome
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?
- Angelman syndrome (correct)
- Down syndrome
- Prader-Willi syndrome
- Fragile X syndrome
Which of the following is NOT typically associated with Prader-Willi syndrome?
Which of the following is NOT typically associated with Prader-Willi syndrome?
- Prolonged laughter (correct)
- Obesity
- Hypogonadism
- Hypotonia
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?
What do Angelman and Prader-Willi syndromes have in common?
What do Angelman and Prader-Willi syndromes have in common?
Flashcards
Angelman syndrome
Angelman syndrome
A condition caused by a small deletion of genes on chromosome 15, specifically on the maternal chromosome, resulting in intellectual disability, lack of speech, poor motor skills, and uncontrollable laughter.
Prader-Willi syndrome
Prader-Willi syndrome
A disorder characterized by weak muscle tone (hypotonia), excessive weight gain (obesity), intellectual disability, underdeveloped reproductive organs (hypogonadism), and undescended testicles (cryptorchidism).
Microdeletion
Microdeletion
A missing segment of DNA on a chromosome, often encompassing a few contiguous genes.
Maternal inheritance
Maternal inheritance
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Paternal inheritance
Paternal inheritance
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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.
