Final 1B

Question 1

Results from complete or partial monosomy of the X chromosome?

Answer 1

Turner Syndrome

Question 2

What is the karyotype for Turner syndrome?

Answer 2

45 XO

Question 3

What is the most common sex chromosome abnormality in females with Turner syndrome?

Answer 3

hypogonadism in phenotypic females

Question 4

General characteristics of Turner syndrome?

Answer 4

neck webbing (cystic hygroma)
broad chest, widely spaced nipples
streak ovaries
amenorrhea
cubitus valgus (abnormal carrying angle of arm)
congenital heart defects
inadequate breast development
little pubic hair

Question 5

Know the lab values of Klinefelter’s syndrome as it relates to testosterone?

Answer 5

levels are reduced

Question 6

What is the classic congenital heart defect seen in Turner’s syndrome?

Answer 6

Coarctation of the Aorta and Bicuspid Aortic Valves

Question 7

What is a cystic hygroma?

Answer 7

Distended lymphatic channels causing a webbing of the neck seen in Turner syndrome

Question 8

What is the genetics of Huntington disease?

Answer 8

autosomal dominant genetic disorder

located on chromosome 4

Question 9

What are some characteristics of Huntington disease?

Answer 9

involuntary movements of the body
deterioration of cognitive functions
severe emotional disorders
affects european whites

Question 10

One of the purest examples of a true autosomal completely dominant disorder?

Answer 10

Huntington Disease

Question 11

What is the genetics of Marfan’s syndrome?

Answer 11

autosomal dominant disorder

chromosome 15 dysfunction

Question 12

What’s 1 organ system involved in Marfan syndrome?

Answer 12

Skeletal
slender and tall
head elongated (dolichocephalic)
spider fingers (arachnodactyly)
joints loose (kyphoscoliosis)

Question 13

What’s the 2nd organ system involved in Marfan syndrome?

Answer 13

Cardiovascular changes
heart vessels weak
dilation of aorta (aneurysm)
mucinous mucopolysaccharide deposition

Question 14

What’s the 3rd organ system involved in Marfan syndrome?

Answer 14

Ocular changes
deformities of eye
cataracts, retinal detachments
blindness

Question 15

What is the protein deficiency in Marfan syndrome?

Answer 15

Fibrillin

needed for organ tissue structure

Question 16

What is the most common autosomal recessive disease?

Answer 16

Cystic Fibrosis
Caucasians
Abnormal Chloride transport (sweat test)

Question 17

What organ systems involved with Cystic Fibrosis?

Answer 17

pancrease
intestines
lungs/bronchi

Question 18

What gram- microorganism do Cystic Fibrosis patients have to worry about?

Answer 18

Pseudomonas aeruginosa

Question 19

What is a sweat test and what disease would you use it in?

Answer 19

measures concentration on chloride secreted during sweating; used to determine cystic fibrosis

Question 20

What is Osteogenesis Imperfecta (OI)?

Answer 20

A group of heritable disorders of connective tissue (brittle bone disease) that affects skeleton, joints, teeth, sclera, skin, ligaments, and the ears.

Question 21

What is the genetics of osteogenesis imperfecta?

Answer 21

mutation in gene for Type I collagen (Procollagen)

COL1A1, COL1A2

Question 22

Where are the genes that cause OI located?

Answer 22

chromosome 17 and 7

Question 23

Characteristics of osteogenesis imperfecta?

Answer 23

birth fractures
blue sclera
hearing loss
Kyphoscoliosis

Question 24

What teeth malformations are seen in osteogenesis imperfecta from the hypoplasia of dentine and pulp?

Answer 24

teeth misshapen

bluish-yellow in color

Question 25

Which 2 disorders are having to do with hyaline membrane disease of newborns? (has to do with charged oxygen radicals)

Answer 25

1) retrolental fibroplasias (leads to blindness) | 2) Bronchopulmonary dysplasia (wall thickening)

Question 26

And in hyaline membrane disease, which congenital heart defect is associated with this disorder because of the prematurity?

Answer 26

Persistent Ductus Arteriosus (PDA)

Question 27

What is fragile X syndrome?

Answer 27

most common from of inherited mental retardation due to defect on long arm of X chromosome

Question 28

What are the characteristics of Fragile X syndrome?

Answer 28

``` increased head circumference facial coarsening joint hyperextensibility enlarged testes abnormalities of cardiac valves mental retardation ```

Question 29

What is Duchenne's Muscular dystrophy?

Answer 29

severe x-linked recessive disorder of muscle caused by mutation of gene DMD (degeneration of muscles

Question 30

What is the genetic transmission of Duchenne's muscular dystrophy?

Answer 30

male to male | although females may be carriers

Question 31

What is the Gower's sign in Duchenne's muscular dystrophy?

Answer 31

walking up the body | child helps himself to get up with upper extremities

Question 32

What is the protein that is deficient in Duchenne's Muscular Dystrophy?

Answer 32

DMD gene codes for Dystrophin