prader_willi_syndrome_flashcards

1
Q

What is Prader-Willi syndrome an example of?

A

Genetic imprinting where the phenotype depends on whether the deletion occurs on a gene inherited from the mother or father.

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2
Q

What determines whether Prader-Willi syndrome or Angelman syndrome occurs?

A

Prader-Willi syndrome occurs if the gene is deleted from the father, and Angelman syndrome occurs if the gene is deleted from the mother.

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3
Q

What is Prader-Willi syndrome associated with?

A

The absence of the active Prader-Willi gene on the long arm of chromosome 15.

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4
Q

What are the genetic causes of Prader-Willi syndrome?

A

Microdeletion of paternal 15q11-13 (70% of cases), maternal uniparental disomy of chromosome 15.

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5
Q

What are the features of Prader-Willi syndrome?

A

Hypotonia during infancy, dysmorphic features, short stature, hypogonadism and infertility, learning difficulties, childhood obesity, behavioural problems in adolescence.

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