Genetics

Question 1

What defines an autosomal recessive disorder?

Answer 1

BOTH parents carry abnormal gene (2 copies)

Question 2

What defines x-linked genetic disorders?

Answer 2

Abnormal gene on X chromosome (male always gets it)

Female get it if she’s homozygous

Question 3

What is Fragile X Syndrome?

Answer 3

MALES

Big head, long face, big ears, flat feet, big balls, flexible joints, & behavioral probs

Question 4

What are two examples of sex chromosome abnormalities?

Answer 4

1. ) Turner Syndrome

2. ) Klinefelter Syndrome

Question 5

What is Turner Syndrome?

Answer 5

FEMALES ONLY – absence of 2nd sex chromosome

Question 6

S/S of Turner Syndrome =

Answer 6

Weblike neck, broad chest, wide nips, short fingers/toes, & cognitive probs

Question 7

Complications of Turner Syndrome =

Answer 7

EAR probs

Heart, liver, & kidney probs

Question 8

How is Turner Syndrome treated?

Answer 8

GH & estrogen replacement

Question 9

What is Klinefelter Syndrome?

Answer 9

Extra X chromosome

Question 10

S/S of Klinefelter Syndrome =

Answer 10

Lack of secondary sex characteristics–no facial hair, no pubic hair, hypogonadism, infertile, gyno, tall w/short torso, ADD, & speech probs

Question 11

Treatment for Klinefelter Syndrome =

Answer 11

Enhance masculine characteristics – no cure

Question 12

What are the THREE impairments w/autism?

Answer 12

1. ) Communication
2. ) Socialization
3. ) Repetitive behavior (rocking/flapping)

Question 13

Examples of autosomal recessive disorders =

Answer 13

Cystic fibrosis
Beta thalaseemia
Sickle-cell anemia

Question 14

What are some X-linked disorders?

Answer 14

Duchennes muscular dystrophy
Fragile X Syndrome
Hemophilia (some types)