Genetics

Question 1

Most common chromosomal number abnormality

Answer 1

Trisomies

Question 2

Trisomy 18

Answer 2

Edward sydrome

Question 3

Flat facial profile, saddle gap, clinodactyly, transverse palmar crease, brachycephaly

Answer 3

Down syndrome

Question 4

Later in life, Children with trisomy 21 are at risk for:

Answer 4

Alzheimer’s, acute lymphoblastic leukemia

Question 5

Rocker bottom feet

Answer 5

Edward’s syndrome

Question 6

Trisomy 13

Answer 6

Patau syndrome

Question 7

Moderate microcephaly, sloping forehead, microophthalmia, cleft lip and palate, malformed ears, scalp defects, rocker bottom feet, cryptochordism

Answer 7

Patau syndrome

Question 8

45, X

Answer 8

Turner syndrone

Question 9

Female, short stature, underdeveloped gonads, thyroglossal duct cyst, coarctation of the aorta

Answer 9

Turner syndrome (45,X)

Question 10

Most common cause of primary amenorrhea

Answer 10

Turner syndrome (45,X)

Question 11

Management for Turner syndrome (45,X)

Answer 11

Recombinant growth hormone

Question 12

47, XXY

Answer 12

Klinefelter syndrome

Question 13

Male, tall, gynecomastia, delayed secondary sex characteristics, small testes, azoospermia

Answer 13

Klinefelter syndrome (47, XXY)

Question 14

Management for Klinefelter syndrome (47, XXY)

Answer 14

Androgen replacement therapy

Question 15

Most common form of MR in males

Answer 15

Fragile X syndrome

Question 16

Most common form of MR in males

Answer 16

Fragile X syndrome

Question 17

Macro orchidism, large size, long face, prominent jaw, large prominent ears, stereotyped behavior and speeh

Answer 17

Fragile X syndrome

Question 18

Screening for trisomies

Answer 18

ACE (down up down) low maternal serum AFP, increased human chorionic gonadotrophin, low unconjugated estriol