prader_willi_syndrome_flashcards
What is Prader-Willi syndrome an example of?
Genetic imprinting where the phenotype depends on whether the deletion occurs on a gene inherited from the mother or father.
What determines whether Prader-Willi syndrome or Angelman syndrome occurs?
Prader-Willi syndrome occurs if the gene is deleted from the father, and Angelman syndrome occurs if the gene is deleted from the mother.
What is Prader-Willi syndrome associated with?
The absence of the active Prader-Willi gene on the long arm of chromosome 15.
What are the genetic causes of Prader-Willi syndrome?
Microdeletion of paternal 15q11-13 (70% of cases), maternal uniparental disomy of chromosome 15.
What are the features of Prader-Willi syndrome?
Hypotonia during infancy, dysmorphic features, short stature, hypogonadism and infertility, learning difficulties, childhood obesity, behavioural problems in adolescence.
