Genetic disorders

Question 1

defective protein in connective tissue

Answer 1

marfan syndrome

Question 2

abnormal hemoglobin protein in RBC

Answer 2

Sickle cell anemia

Question 3

lack of a substance needed for bones to absorb minerals

Answer 3

vitamin D-resistant rickets

Question 4

reduced activity of a protein needed for blood clotting

Answer 4

hemophilia A

Question 5

mode of inheritance of marfan syndrome

Answer 5

autosomal dominant

Question 6

mode of inheritance of sickle cell anemia

Answer 6

autosomal recessive

Question 7

mode of inheritance of Vitamin D- resistant rickets

Answer 7

x-linked dominant

Question 8

mode of inheritance of hemophilia A

Answer 8

x-linked recessive

Question 9

It is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body.

Answer 9

Marfan syndrome

Question 10

It affects the shape of red blood cells, which carry oxygen to all parts of the body

Answer 10

Sickle cell anemia

Question 11

difficult to maintain proper calcium and phosphorus levels in
bones, which can cause rickets.

Answer 11

Vitamin D- resistant rickets

Question 12

which is not true in chromosomal disorders?
- Mistakes may occur during meiosis that result in nondisjunction.
- This is the failure of replicated chromosomes to separate during
meiosis (the animation at the link below shows how this
happens).
- Some of the resulting gametes will be having a chromosome,
while others will have an extra copy of the chromosome. If such
gametes are fertilized and form zygotes, they usually do not
survive.
- If they do survive, the individuals are likely to have serious
genetic disorders.

Answer 12

3, missing of a chromosome

Question 13

Down syndrome genotype

Answer 13

extra copy of chromosome 21

Question 14

Turner’s syndrome genotype

Answer 14

one X chromosome but no other sex chromosome (XO)

Question 15

Triple X syndrome

Answer 15

three X chromosomes (XXX)

Question 16

Klinefelter’s syndrome

Answer 16

one Y chromosome and two or more X chromosomes (XXY, XXXY)

Question 17

It is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21.

Answer 17

Down syndrome

Question 18

A condition that affects only females, results when one of the X chromosome (Sex chromosomes is missing or partially missing.

Answer 18

Turner syndrome

Question 19

Delayed motor development, delayed speech, low IQ, abdominal pain and ADHD

Answer 19

Triple X syndrome

Question 20

This results in smaller testicles, which can lead to making less of the hormone testosterone

Answer 20

Klinefelter’s syndrome

Question 21

Professionals that handling diagnosing genetic disorders

Answer 21

genetic councelors

Question 22

One method of prenatal testing. A few fetal cells are extracted from the fluid surrounding the fetus, and the fetal chromosomes are examined.

Answer 22

amniocentesis

Question 23

Genes contain DNA — the code that controls much of the body’s form and function. DNA controls everything from hair color and height to breathing,
walking and digesting food.

Answer 23

Gene Therapy