genetic disorders

Question 1

also known as trisomy 21

Answer 1

Down Syndrome (47, 21+)

Question 2

is caused by the presence of an extra copy of chromosome 21, resulting in a total of 47 chromosomes instead of the typical 46.

Answer 2

down syndrome

Question 3

T OR F

Down syndrome can be mental, physical, and cognitive

Answer 3

true

Question 4

characterized by the presence of an extra Y chromosome in males, resulting in a karyotype of 47, XYY.

Answer 4

Jacob Syndrome (47, XYY)

Question 4

down syndrome is not autosomal
true or false

Answer 4

false

Question 4

a sex-linked condition occurring on chromosome 23. It affects males, indicated by the presence of the Y chromosome. This syndrome impacts the endocrine system, which governs hormones, thus influencing physical, mental, and cognitive health.

Answer 4

Klinefelter syndrome

Question 5

jacob syndrome is more severe than klinefelter syndrome

t or f

Answer 5

false

jacob syndrome is less severe

Question 5

is a genetic condition characterized by the presence of an extra X chromosome in males, resulting in a karyotype of 47, XXY.

Answer 5

Klinefelter syndrome

Question 5

all or part of one X chromosome is
absent

Answer 5

Turner Syndrome

Question 6

turner syndrome is an autosomal disorder

true or false

Answer 6

false

it is sex linked

Question 6

turner syndrome occurs to what gender?

Answer 6

females

Question 7

Deletion of chromosome 5

Answer 7

Cri-du-chat Syndrome

Question 8

usually found in the crying of babies, is characterized by a distinct high-pitched cry resembling that of a cat.

Answer 8

Cri-du-chat Syndrome

Question 9

severe developmental delay and cognitive deficits and distinctive facial abnormalities
○ Round face, low-set ears
○ Microcephaly
■ Underdeveloped brain
○ Hypoplastic nasal bridge

Answer 9

Cri-du-chat Syndrome

Question 10

Piece of chromosome breaks off and re-attaches to a different chromosome

Answer 10

TRANSLOCATIONS