Genetic Disorders

Question 1

Down Syndrome- Trisomy 21 s/s:

Answer 1

• Epicanthal fold of eyelid
• Small nose
• High, arched, narrow palate
• Excess neck skin
• Wide space between big and second toe
• Simian crease
• Hyperflexibility and hypotonia
• Increased risk of CHD and Leukemia

Question 2

Fragile X Syndrome
Genetic

Answer 2

X Chromosome

Question 3

Fragile X Syndrome
Incidence

Answer 3

• Boys-1:3600 carriers are 1:468
• Girls 1:4000 and carriers 1:151

Question 4

Fragile X Syndrome s/s:

Answer 4

• Long face with prominent jaw
• Large protruding ears
• Large testes
• Cognitive impairment
• Speech delay
• Hyperactivity
• Autistic like behaviors

Question 5

Fetal Alcohol Syndrome S/S:

Answer 5

• Microcephaly
• Small eyes and short palpabral fissures
• Thin upper lip
• Flat midface
• Wide philtrum
• Cognitive disability
• ADHD
• Speech disorders
• Lack of inhibition and judgment skills