Week 2

Question 1

Fragile X Syndrome

Answer 1

A disorder produced by injury to a gene on the X chromosome, producing mild to moderate mental retardation

Question 2

Rett Syndrome

Answer 2

progressive neurological developmental disorder, caused by X chromosome mutation. Features include slow development, compulsive handwringing, intellectual disability, and impaired motor skills

Question 3

Prader-Willi Syndrome

Answer 3

Caused genetic abnormality in chromosome 15, where paternal material is missing. The hypothalamus & pituitary gland are affected, resulting in low muscle tone, lethargy, feeding difficulty, intellectual disability, and extreme weight gain due to constant feeling of hunger

Question 4

Angelman Syndrome

Answer 4

Caused genetic abnormality in chromosome 15, where maternal material is missing. Characterized by persistent smiling, ataxic movement, hand flapping, communication difficulties, and cognitive impairment

Question 5

Mitochondria

Answer 5

Powerhouse of the cell, organelle that is the site of ATP (energy) production

Question 6

Mitochondrial Disorders

Answer 6

Caused by mutations in mitochondrial DNA, resulting in decreased energy in cells and organ system dysfunction

Question 7

Williams Syndrome

Answer 7

a genetic condition characterized by mild to moderate intellectual disability, unique personality characteristics, distinctive facial features, and cardiovascular problems

Question 8

Ehlers-Danlos Syndrome

Answer 8

A group of inherited disorders that affect connective tissues — primarily skin, joints and blood vessel walls. Characterized by overly flexible joints and stretchy, fragile skin.