Microdeletion Syndrome Overview

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Questions and Answers

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?

Angelman syndrome (correct)
Down syndrome
Prader-Willi syndrome
Fragile X 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?

<p>Prader-Willi syndrome (C)</p> Signup and view all the answers

What do Angelman and Prader-Willi syndromes have in common?

<p>They both involve microdeletions on the same chromosome (A)</p> Signup and view all the answers

Flashcards

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

A disorder characterized by weak muscle tone (hypotonia), excessive weight gain (obesity), intellectual disability, underdeveloped reproductive organs (hypogonadism), and undescended testicles (cryptorchidism).

Microdeletion

A missing segment of DNA on a chromosome, often encompassing a few contiguous genes.

Maternal inheritance

The process of inheriting a genetic condition when a parent passes on a chromosome with a deletion.

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Paternal inheritance

The process of inheriting a genetic condition when a parent passes on a chromosome with a deletion.

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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.