Genetics - quick info

Question 1

Down Syndrome (etiology and risk factors)

Answer 1

Etiology – Trisomy 21 (extra 21 chromosome)
Risk Factors
Advanced maternal age

Question 2

Down Syndrome Clinical Pres

Answer 2

• Developmental and intellectual delays
• Septal heart defects
• Duodenal atresia
• Immunocompromised
• Craniofacial features that are hypoplastic
• Diastasis recti and general hypermobility
• Simian crease in hand
• C1/C2 instability
• Overweight and obese
• AD by age 40
• Hypothyroidism that can look like AD

Question 3

Prader Willi

Answer 3

1. From Father
2. Infancy
   
   • poor feeding and low muscle tone
3. Childhood
   
   • Overeating
   • Intellectual disability
   • Low sex hormones
   • Behavioral issues 🡪 temper tantrums, stubbornness, OCD

Question 4

Angelman’s (aka happy puppy)

Answer 4

1. From Mother
2. Puppet like attributes
   
   • Ataxia
   • Puppet like gait
   • Frequent and inappropriate laughter
   • Seizure and sleep disorder
   • Love water

Question 5

Marfan

Answer 5

1. Etiology – defective connective tissue
2. Clinical presentation
   
   • Cardiovascular – aortic dilation w/valve regurgitation + dissecting aneurysm
   • Deformed chest, tall, long arms and finger
   • Dislocation of lenses in eyes and retinal detachment

Question 6

Turner Syndrome

Answer 6

1. Females only – born with only 1 X chromosome
2. Clinical Presentation
   
   • Sexual infantilism
   • Congenital webbed neck
   • Cubitus valgus
   • Weaker bones, cardiac problems, overall intelligence unaffected

Question 7

Klinefelter

Answer 7

1. Etiology – Boys born with an extra X chromosome
2. Clinical Presentation
   
   • Low testosterone and reduced muscle mass

Question 8

Cri-Du-Chat Syndrome

Answer 8

1. Etiology – missing part of Chromosome 5
2. Clinical Presentation – very small kitten
   
   • “cry of the cat”
   • Small head
   • Flattened bridge of the nose
   • Low birth weight
   • Hypotonia
   • Feeding difficult

Question 9

Williams Syndrome

Answer 9

1. Etiology – disturbance Elastin Gene
2. Clinical Presentation – ELF
   
   • Elfin like face
   • Cardiovascular disease
   • Mild cog impairments , ADD
   • Musically talented

Question 10

Fragile X Syndrome

Answer 10

1. Etiology – males more than females
2. Clinical presentation
   
   • Mild to severe intellectual disability → lead cause of a developmental learning disorder
   • Large ears
   • Long face
   • Prominent jaw/forehead
   • Flat feet

Question 11

Rett Syndrome

Answer 11

1. Clinical Presentation – essentially all women, males who have it die
   
   • Infants initially seem healthy in first 6 months than rapidly regress in motor, language and psychosocial functions
   • Fits of screams and crying common by 18-24 months
   • After rapid deterioration it becomes somewhat stable

**R for Roller Coaster

Question 12

Neurofibromatosis

Answer 12

1. Etiology – condition that causes tumors (generally non-cancerous) to grow anywhere in the nervous system
2. Clinical Presentation
   
   • Café-au-lait spots
   • Fibromas
   • Lich nodules in the eyes