GS

Question 1

Which of the following is associate with a chromome 4 deficit?

(A) Klinefelter Syndrome
(B) Phenylketonuria
(C) Prader-Willi
(D) Achondroplasia

Answer 1

D. Achondroplasia

Question 2

Someone with Achondroplasia is expected to have a life expectancy of ____ years less than individuals without the genetic syndrome?

(A) 5
(B) 10
(C) 15
(D) 20

Answer 2

(B) 10

Question 3

What are examples of considerations for someone with Achondroplasia

Answer 3

• Avoid knee hyperextension
• Avoid aggressive stretching
• Monitor breathing
• Monitor psychosocial factors
• Identify any adaptive equipment needed/used

Question 4

“Short stature (about 4ft), disproportionate limb shortening, Large head, Delayed Motor Development, frequent ear infections, and hypotonia are all signs/symptoms of…”

(A) Achondroplasia
(B) Angleman’s Syndrome
(C) Fragile X Syndrome
(D) Neurofibromatosis

Answer 4

(A) Achondroplasia

Question 5

Which genetic syndrome affects the gene located on chromosme 15 on the maternal side?

(A) Phenylketonuria
(B) Marfan Syndrome
(C) Prader-Willi
(D) Angleman’s Syndrome

Answer 5

(D) Angleman’s Syndrome

Question 6

Which genetic syndrome correlates with “Partial or completed deltion of chromosome 5P?

(A) Rett Syndrome
(B) Tay-Sachs
(C) Cri Du Chat
(D) Turner Syndrome

Answer 6

(C) Cri Du Chat

Question 7

Which genetic syndrome is X-linked dominant?

(A) Fragile X Syndrome
(B) Klinefelter Syndrome
(C) Marfan Syndrome
(D) Achondroplasia

Answer 7

(A) Fragile X Syndrome

Question 8

Which genetic syndrome affects 2 or more chormosomes in a male?

(A) Prader-Willi
(B) Turner Syndrome
(C) Tay-Sachs
(D) Klinefelter Syndrome

Answer 8

(D) Klinefelter Syndrome

Question 9

Which genetic syndrome is affects chromosome 17?

(A) Marfan Syndrome
(B) Rett Syndrome
(C) Neurofibromatosis
(D) Angleman’s Syndrome

Answer 9

(C) Neurofibromatosis

Question 10

Which genetic syndrome is considered an autosomal recessive genetic disorder?

(A) Turner Syndrome
(B) Phenylketonuria
(C) Down Syndrome
(D) Cri Du Chat

Answer 10

(B) Phenylketonuria

Question 11

Which genetic syndrome is affects chromosome 17 &&& typically presents with fetal hypotonia and Decreased levels of Human Growth Hormone?

(A) Prader Willi
(B) Achondroplasia
(C) Klinefelter Syndrome
(D) Down Syndrome

Answer 11

(A) Prader Willi

Question 12

Which genetic syndrome is described as the “only monsoonal issue in which someone can live a relatively normal life-time”?

(A) Phenylketonuria
(B) Tay-Sachs
(C) Rett Syndrome
(D) Turner Syndrome

Answer 12

(D) Turner Syndrome

Question 13

Which genetic syndrome that is explained to directly affect the nervous system?

(A) Angleman’s Syndrome
(B) Fragile X Syndrome
(C) Rett Syndrome
(D) Cri Du Chat

Answer 13

(C) Rett Syndrome