Module 2 Genetics

Question 1

Clinical Genetic Purpose

Answer 1

• Genetic disorder care
• Prenatal diagnosis
• Cancer genetics
• Newborn screening
• Metabolic genetics
• Population screening

Question 2

Load of Genetic Disease

Answer 2

• Miscarriages
• Congenital anomaly
• Chromosome anomaly
• Pediatric admissions

Question 3

Genotype

Answer 3

• Genetic makeup

Question 4

Phenotype

Answer 4

• Physical manifestation
• Inherited trait/disease

Question 5

New Dominant

Answer 5

• People with condition in each generation
• Males/females affected
• Forms of transmission

Question 6

Polycystic Kidney Disease

Answer 6

• Bilateral renal cysts
• Liver cysts
• Intracranial aneurysms risk

Question 7

Autosomal Recessive

Answer 7

• Equal males/females
• Sid ship in 1 generation
• Increase consanguinity

Question 8

Cystic Fibrosis

Answer 8

• European population prevalence
• CFTR gene mutation

Question 9

X-Linked Inheritance

Answer 9

• Mostly male affected
• Female carrier to son (possible)
• Male carrier to son (not possible)
• Carrier females mildly affected

Question 10

Males Affected by X-Linked

Answer 10

• 1 X chromosome
• Must express all x-linked genes
• Hemizygous

Question 10

Females Affected by X-Linked

Answer 10

• XX pairing
• Gene prevents symptoms

Question 11

Duchenne Muscular Dystrophy

Answer 11

• Affect males in 20’s
• Cannot reproduce
• Mutation inherited from mother/de novo
• Increase in spontaneous mutation (1/3)

Question 12

Mitochondrial DNA Disorders

Answer 12

• Inherited from mother in egg
• Mitochondria have own DNA

Question 13

Mitochondrial Multisystemic Disorders

Answer 13

• Diabetes
• Hearing loss
• Limited eye movement
• Cardiomyopathy
• Fatigue & low tone
• Cognitive dysfunction
• Feeding difficulties
• Constipation

Question 14

G-Banded Chromosomes

Answer 14

• Euploid
• Karyotype

Question 15

Chromosomal Disorders

Answer 15

• Numerical anomaly
• Structural anomaly

Question 16

Nondisjunction

Answer 16

• Meiosis I
• Most common trisomy 21 cause

Question 17

Trisomy 21

Answer 17

• 47 total chromosomes
• XY
• Third 21st chromosome

Question 18

Down Syndrome

Answer 18

• Extra 21st chromosome
• Distinct facial features
• Developmental delay
• Heart defects

Question 19

Trisomy 21 Severity

Answer 19

• Nondisjunction (highest)
• Translocation
• Mosaic (mild)

Question 20

Structural Anomalies

Answer 20

• Recombination error
• Balanced or unbalanced

Question 21

Balanced Reciprocal Translocation

Answer 21

• No clinical effects for carrier
• Risk for stillbirths/miscarriages

Question 22

Trisomy 13

Answer 22

• Patau syndrome
• Midline defects
• Cleft palate
• Extra finger
• Developmental delay
• Death within first year of life

Question 23

Trisomy 18

Answer 23

• Edward syndrome
• Majority female
• Cardiac defects
• Developmental delay
• Death within first year of life

Question 24

Turner Syndrome

Answer 24

- 45X - Puffy hands & feet at birth - Webbed neck - Coarctation of aorta - Short stature - Amenorrhea & infertility - Normal intelligence

Question 25

Klinefelter Syndrome

Answer 25

- 47 XXY - Tall stature - Gynecomastia (large breast) - Small testes - Learning disability prone - Infertility