Genetic Disorders

Question 1

Familial hypercholesterolemia- etiology and epidemiology

Answer 1

Single gene autosomal dominant, 1/500 adults

Question 2

Familial hypercholesterolemia: disease process l

Answer 2

Lack receptors for Ldl cholesterol removal, so increased blood concentration of Ldl
If homozygous then more severe

Question 3

Familial hypercholesterolemia- prognosis and clinical manifestations

Answer 3

-Atherosclerosis (build up of fat & cholesterol in arterial walls
-myocardial infarction
-coronary artery disease
Zanthomas= cholesterol deposits

Question 4

Marfan syndrome,
Etiology and epidemiology

Answer 4

Single gene autosomal dominant
1/5000 (70-80% cases are familial, rest are sporadic)

Question 5

Marfan syndrome, pathology

Answer 5

Connective tissue disorder
Fibrillin is not working properly, leading to
-issues in heart valves
-ligament hypermobility
-joint pain

Question 6

Marfan syndrom- prognosis and clinical manifestations

Answer 6

• aortic aneurysms because of floppy valves
  -cardiovascular defects can lead to rupture of aorta

Question 7

Marfan syndrome, where does it occur?

Answer 7

-eye: lens dislocation, myopia
-skeletal: pigeon chest, funnel chest, vertebral deformity, long arms, tall in stature

Question 8

Tay Sachs disease: etiology and epidemiology

Answer 8

Single gene autosomal recessive disorder
Found in ashkenazi jews

Question 9

Tay Sachs disease; patho and prognosis

Answer 9

Destruction of neurons in brain b/c of abnormal lipid accumulation

Death w/in 3years

Question 10

Tay sachs: clinical and diagnostics

Answer 10

Cherry red spot on retina
Issues of coordination
Muscles flaccidity
Cognitive impairment

Question 11

Fragile X - etiology and epidemiology

Answer 11

Single gene x linked dominant
1/1250 males
1/2500 females

Question 12

Fragile X: pathology and prognosis

Answer 12

X chromosome and has repeating sequence of nucleotides
Not life threatening but significant cognitive impairment esp in males

Question 13

Fragile X: where does it occur

Answer 13

Long face and mandible
Large inverted ears
Large testicles
Common cause if mental deficiencies

Question 14

Neuro fibromatosis: etiology and epi

Answer 14

Single gene autosomal dominant
1/3000, 50% familial

Question 15

Neuro fibromatosis : manifestations and prognosis

Answer 15

-increased risk of malignant neurogenic tumors
- cafe au lait spots during puberty
-cutaneous and sub cutaneous neuro fibromas on trunk
- learning disability, neuro issues

Question 16

Down syndrome, etiology and epidemiology

Answer 16

Eti: extra set of chromosome 21 (47 total)
Chromosomal
Environmental, linked to maternal age

Question 17

Down syndrome: clinical
Manifestations

Answer 17

• mental retardation
• heart disease
  -weakened immune system
  Congenital heart disease

Question 18

Turner syndrome- etiology and epidemiology

Answer 18

Eti: absence of all or part of x chromosome
(Chromosomal)
Epi: 1/2500 live births
Most frequent genetic disorder in women

Question 19

Turner syndrome; pathology and manifeststions

Answer 19

45 X (only one sex chromosome)
- short stature
- infertility
- lacking breast development
- amenorrhea
- cardiovascular problems
Lymphedema of neck

Question 20

Klinefelter syndrom: etio ans epi

Answer 20

Eti:
Extra X
Chromosomal
Epi: only in males 1/500-1000

Question 21

Klinefelter: pathology

Answer 21

47 XXY
Bc of non disjunction during miotic division

Question 22

Kline felter- manifestations
Prognosis

Answer 22

Lack of testes development
Infertility
Gynecomastia

Risk of auto immune disordersC
Diabetes mellitus
Brain/ testes tumor