Inheritance

Question 1

genetics behind Prader-Willi syndrome?

Answer 1

• deletion of proximal portion of chromosome 15
• Deletion is Paternal origin
• Maternal allele inactivated

Question 2

Describe the clinical features of Prader-Willi syndrome?

Answer 2

• Presents in infancy
• hypotonia, poor feeding, characteristic facial features (almond-shaped eyes, downward-turned mouth)
• hyperphagia, obesity, short stature (partial GH deficiency), intellectual disability, behavior disorders (tantrums, skin picking, OCD), hypogonadotropic hypogonadism –> genital hypoplasia, osteoporosis, delayed menarche

Question 3

Treatment for Prader-Willi syndrome

Answer 3

• limit access to food

- GH if short stature

Question 4

Genetics behind Angelman syndrome

Answer 4

• Deletion of chromosome 15
• deletion is maternal allele
• paternal allele inactivated

Question 5

clinical symptoms of Angelman syndrome

Answer 5

• ataxia

- happy, inappropriate laughter