Genetic Disorder

Question 1

What are the inheritance patterns of Ehler-Danlos syndrome?

Answer 1

Autosomal Dominant and Autosomal Recessive

Question 2

What is the genetic defect found in Marfan Syndrome? Which chromosome can this be found?

Answer 2

Fibrillin - 1 gene ( chromosome 15)

Question 3

Name the two X-linked dominant disorders?

Answer 3

1. Alport Syndrome
2. Vitamin D- resistant Rickets

Question 4

What is the most common lysosomal storage disorder? What is the defect in this disorder?

Answer 4

1. Gaucher disease
2. Glucocerebrosidase ( B- glucosidase) deficiency

Question 5

What cardiac finding is most associated in Trisomy 21?
What hematologic cancer is most commonly found in patients with this disorder?

Answer 5

Ebdocardial cushion defect;
Acute megakaryoblastic leukemia

Question 6

What is the single most important cause of primary amenorrhea?

Answer 6

Turners syndrome

Question 7

Most common chromosomal disorders, leading cause of MR , most common cause :
Nondisjunction of Ch21 during meiosis ; diagnostic clinical features: flat facial profile , oblique palpebral fissures, and epicanthal folds.

Answer 7

Trisomy 21 ( Down Syndrome )

Question 8

Prominent occiput, mental retardation, micrognathia, low set ears, short neck , overlapping fingers , cardiac defects, renal malformations, limited hip adbuction , and rocker bottom feet are features of this syndrome?

Answer 8

Trisomy 18 ( Edward Syndrome)

Question 9

Microcephaly and mental retardation, microphathalmia , cleft lip and palate, polydactyly, cardiac defects, and rocker-bottom feet are features of this syndrome.

Answer 9

Trisomy 13 ( Patau Syndrome)

Note: underlying features help distinguish syndrome from Trisomy 18

Question 10

Which of the following is Not X-linked ?
a. Brutonagamaglubinemia
b. Ehler-Danlos Syndrome
c. G6PD deficiency
d. Hemophilia A

Answer 10

Ehler-Danlos Syndrome : Autosomal Dominant & Recessive

Question 11

23/M with atherosclerotic cardiovascular disease and xanthomas. Family history of similar disease is noted. Elevated LDL-C with normal triglycerides. Diagnosis?

Answer 11

Familial hypercholesterolemia

Question 12

Most common mutated gene in Familial hypercholesterolemia?

Answer 12

LDL receptor (LDLR) ( 80-85% of cases)

Question 13

23/ M , 6’1” , presents with sharp anterior chest pain radiating to the back then downward. What disease should be considered?

Answer 13

Marfan Syndrome

Question 14

Which of the following genetic abnormalities is NOT associated with the development of congenital heart disease ?
a. Trisomy 13
b. 15
c. 16
d. 18
e. 21

Answer 14

Trisomy 16

Question 15

The following diseases are related to Marfan Syndrome. (3)

Answer 15

1. Bicuspid aortic valve
2. Familial thoracic aortic aneurysm
3. Ehlers-Danlos Syndrome

Question 16

Mutation in the gene of this lipoprotein results in a receptor disease of familial hypercholesterolemia.

Answer 16

LDL