GENETIC DISORDERS

Question 1

It is the result of a mutation where there is a change in just one nucleotide in the gene for hemoglobin.

Answer 1

Sickle Cell Anemia

Question 2

It causes the hemoglobin in red blood cells to transform to a sickle shape when de-oxygenated.

Answer 2

Sickle Cell Anemia

Question 3

It is a progressive, genetic disease that affects the secretory glands, including the mucus and sweat glands.

Answer 3

Cystic Fibrosis

Question 4

It is a rare inherited disorder that causes progressive damage to the nervous system and most commonly affects infants.

Answer 4

Tay-Sachs Disease

Question 5

It is mainly caused by the absence of a vital enzyme called hexosaminidase-A
( Hex-A)

Answer 5

Tay-Sachs Disease

Question 6

It is an inherited bleeding disorder that causes abnormal or exaggerated bleeding and poor blood clotting

Answer 6

Hemophilia

Question 7

It is also called “Trisomy 21”.

Answer 7

Down Syndrome

Question 8

They have 47 chromosomes

Answer 8

Down Syndrome

Question 9

The common physical traits include a flat face, small head and short neck, and upward slanting eyes.

Answer 9

Down Syndrome

Question 10

Also known as XXY condition.

Answer 10

Kleinfelter’s Syndrome

Question 11

It is a chromosomal condition that affects male physical and cognitive development.

Answer 11

Kleinfelter’s Syndrome

Question 12

It is caused by the loss of genes in a specific region of chromosome 15.

Answer 12

Prader-Willis Syndrome

Question 13

It is a complex genetic disorder that affects growth, metabolism, appetite, cognitive function, constant feeling of hunger.

Answer 13

Kleinfelter’s Syndrome

Question 14

It is a rare chromosomal ailment that impacts girls and associated with the x chromosome.

Answer 14

Turner Syndrome

Question 15

Also known as Trisomy 18

Answer 15

Edward Syndrome

Question 16

It is a genetic disorder caused by the presence of all or part of an extra 18th chromosome.

Answer 16

Edward Syndrome

Question 17

It is due to a missing piece (deletion) of a specific part of chromosome 5 known as the ‘p’ arm.

Answer 17

Cri du Chat

Question 18

Infants with this condition often have a high-pitched cat-like cry, small head size, and a characteristic facial appearance.

Answer 18

Cri du Chat

Question 19

It is a condition caused by a loss of genetic material from chromosome 11 because this deletion occurs at the end of the long q arm of chromosome 11.

Answer 19

Jacobsen Syndrome