DISEASES/ABNORMALITIES

Question 1

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

Answer 1

SICKLE CELL ANEMIA

Question 2

a genetic disease common among those who are from Africa

Answer 2

SICKLE CELL ANEMIA

Question 3

red blood cells to transform to a sickle shape when
de-oxygenated

Answer 3

SICKLE CELL ANEMIA

Question 4

affects the secretory glands, including the mucus and sweat glands

Answer 4

CYSTIC FIBROSIS

Question 5

lung infections and limits the ability to breathe over time

Answer 5

CYSTIC FIBROSIS

Question 6

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

Answer 6

TAY-SACHS DISEASE

Question 7

absence of a vital enzyme called
hexosaminidase-A (Hex-A)

Answer 7

TAY-SACHS DISEASE

Question 8

where are Tay-Sachs genes located?

Answer 8

CHROMOSOME 15

Question 9

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

Answer 9

HEMOPHILIA

Question 11

what disease is called as the ‘royal disease’?

Answer 11

HEMOPHILIA

Question 11

people have 47 chromosomes in their cells instead of 46 and suffer from mild to moderate disabilities

Answer 11

DOWN SYNDROME

Question 12

what are the 3 types of Down Syndrome?

Answer 12

Trisomy 21, Mosaicism, Translocation

Question 13

Klinefelter Syndrome is also referred as?

Answer 13

XXY CONDITION

Question 14

chromosomal condition that affects male physical and cognitive development

Answer 14

KLINEFELTER SYNDROME

Question 15

a complex genetic disorder that affects growth, metabolism, appetite, cognitive function, behavioral problems, low levels of sex hormones and a constant feeling of hunger

Answer 15

PRADER WILLI SYNDROME

Question 16

Prader Willi Syndrome is caused by?

Answer 16

loss of genes in a specific region of chromosome 15

Question 17

rare chromosomal ailment that impacts girls

Answer 17

TURNER SYNDROME

Question 18

associated with the x
chromosome that alters development in women

Answer 18

TURNER SYNDROME

Question 19

also known as Trisomy 18

Answer 19

EDWARD’S SYNDROME

Question 20

defects involving the brain, heart, craniofacial structures, kidneys, and stomach

Answer 20

EDWARD’S SYNDROME

Question 21

a genetic condition present from birth that affects growth and development

Answer 21

CRI DU CHAT

Question 22

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

Answer 22

CRI DU CHAT

Question 23

missing piece (deletion) of a specific part of chromosome 5 known as the ‘p’ arm

Answer 23

CRI DU CHAT

Question 24

what is Jacobsen Syndrome

Answer 24

known as 11q terminal deletion disorder, loss of genetic material in chromosome 11