Pathology Genetic Disease

Front 1

Diseases caused by a single gene defect are termed what?

Back 1

Mendelian disorders

Front 2

Diseases caused by abnormalities in chromosomes are termed what?

Back 2

Cytogenic diseases

Front 3

T/F : Marfan Syndrome, Familial Hypercholesterimia, and Neurofibrotamosis are autosomal dominant conditions.

Back 3

TRUE

Front 4

In autosomal dominant disorders, are signs and symptoms presented in infancy or adulthood?

Back 4

sings and symptoms do not appear until adulthood

Front 5

What is the difference between penetrance and expressivity?

Back 5

penetrance is the FREQUENCY in which an abnormal gene produces a disease. Expressivity is the DEGREE of abnormality seen in different individuals.

Front 6

T/F Marfan Syndrome is an Autosomal Dominant disorder of neuronal tissue.

Back 6

FALSE

Marfan affects CONNECTIVE TISSUE

Front 7

What protein is defective in Marfan Syndrome?

Back 7

fibrillin, a glycoprotein component of microfibrillar fibers which serve as scaffolding for deposition of elastin

Front 8

A patient with s high arched plate, abnormally long extremities, hyperextensible joints, bilateral dislocation of lens, floppy valve syndrome (valves soft and highly distensible) and dilation of ascending aorta leading to aortic rupture has what genetic disorder?

Back 8

Marfan Syndrome

Front 9

What protein is deficient in Familial Hypercholesterolemia?

Back 9

LDL (low density lipoprotein) RECEPTOR => deficient cholesterol metabolism

Front 10

Are cholesterol deposits along tendon sheaths and premature atherosclerosis resulting in coronary artery disease seen in patients who are homozygotes or heterozygotes for Cholesterol Hypercholesteremia?

Back 10

heterozygotes

Front 11

Are patients who develop Xanthomas in childhood and frequently die of a myocardial infarction by age 15-20 heterozygotes or homozygotes for familial hypercholesteremia?

Back 11

HOMOzygotes

Front 12

A patient with pedunculated nodules protruding from the skin, pigmented skin lesions, and pigmented iris hamartomas has what disease?

Back 12

Neurofibromatosis 1 (Von Reckling's disease)

Front 13

Cafe au lait spots and Lisch nodues describe what disease?

Back 13

Neurofibromatosis 1

Front 14

T/F Autosomal recessive diseases usually begin in early childhood

Back 14

TRUE

Front 15

T/F Most inborn errors of metabolism and storage diseases are transmitted as autosomal recessive trait

Back 15

TRUE

Front 16

What is the most common lethal genetic disease to affect white people?

Back 16

Cystic Fibrosis

Front 17

What disease is associated with recurrent pulmonary infections, pancreatic insufficiency, defect in sweat glands, and has been mapped to chromosome 7?

Back 17

Cystic Fibrosis

Front 18

Deficiency of Phenylalanine Hydroxylase in patients with PKU fail to convert phenylalanine to what amino acid?

Back 18

Tyrosine

Front 19

T/F Babies with PKU have high phenylalanine levels at birth.

Back 19

FALSE.

reach high levels after 2nd week.

Front 20

Mental retardation, psychotic behavior, uncoordinated movements, tremors, epileptic seizures, eczematous rashes, and pale skin and hair due to reduced melanin production has what disease?

Back 20

PKU

Front 21

A decreased diet of what can prevent mental retardation and other abnormalities in PKU?

Back 21

phenylalanine content

Front 22

T/F Sex linked disorders are both X and Y linked and are mostly dominant.

Back 22

FALSE!!

ONLT X linked and mostly RECESSIVE.

Front 23

Most sex linked disorders like Hemophilia A, Christmas Disease, G6PD def..are RECESSIVE. What X linked disease is dominant?

Back 23

Vitamin D-resistant ricketsia

Front 24

What characteristics appear to be polygenic (determined by combination of several genes at different foci) ?

Back 24

height, body weight, hair color, blood pressure

Front 25

What diseases are multifactorial (genetic + environmental cause) in orgin?

Back 25

- Diebetis mellitus
- Hyoertension
- CAD
- gout
- schizophrenia
- manic depression
- certain congenital malformations

Front 26

What are congenital malformations?

Back 26

Disorders that may be genetic or may be acquired by exposure to teratogenic agents in utero

Front 27

What does TORCH stand for?

Back 27

Toxoplasma
Other
Rubella
Cytomegalovirus
Herpes simplex

- infections that are the major cause of morbidity among newborn children

Front 28

What kind of disorder arrises from alteration in number or structure of chromosomes?

Back 28

Cytogenic disorder

Front 29

What is the difference between aneuloploid and polyploid ?

Back 29

Aneuloploid refers to any normal of chromosomes that in not 46 (extra copy or absence of single chromosome)

Polyploid refers to more than 2 full sets of homologous chromosomes (3n, 4n..)

Front 30

What is the most common chromosomal disorder?

Back 30

Down Syndrome

Front 31

What Chromosome is extra in 95 % of Down syndrome?

Back 31

Chromosome 21

Front 32

What is responsible for most deaths in early childhood of of patients with down syndrome?

Back 32

Heart defect, VSD ( ventricular septal defect)

Front 33

Patients with down syndrome have increased susceptibility to what?

Back 33

serious infections and acute leukemias

Front 34

What is the prognosis of patients with Down Syndrome without heart disease?

Back 34

80% survive 30 years --> develop Alzheimers in middle age

Front 35

Males with more than one X (XXY, XXXY) show what sings and symptoms?

Back 35

small testes, testicular atrophy, infertility, mild retardation, reduced hair, gynecomastia, low serum testosterone, elevated gonadotropin levels.

Front 36

What is the name of the syndrome in which males develop hypogonadism?

Back 36

Klinefelter

Front 37

A woman with a shirt status, web neck, broad chest, lymphedema, and congenital malformation such as coarctation of aorta, and horseshoe kidneys has what karyotype?

Back 37

Only one X chromosome.

Front 38

A patient with poor development of female secondary sec characteristics, primary amenorrhea, rudimentary ovaries, and low estrogen has was disease?

Back 38

Turner Syndrome.

Front 39

T/F : In females with Turner Syndrome and males with Kleinfelter syndrome, sex hormone levels are low (testosterone and estrogen) and gonadotropin levels are also low.

Back 39

FALSE!

Gonadotropin levels are HIGH due to loss of feedback inhibition

Front 40

What is a teratogen?

Back 40

A chemical, physical, and biologic agent that cause developmental anomalies

Front 41

What stage of embryonic development is most susceptible to teratogenesis ?

Back 41

formation of primordial organ system

Front 42

Define the following terms:

Agenesis:
Aplasia:
Hypoplasia:
Dysgraphic anomalies:
Atrasia:
Ectopia:
Dystopia:

Back 42

Agenesis: failure of organ to develop during embryonic development
Aplasia: defective development or absence of organ or tissue
Hypoplasia: Incomplete development of organ or tissue
Dysgraphic anomalies: problems with writing
Atrasia: body orfice abnormally closed or absent
Ectopia: displacement or malposition of organ
Dystopia: abnormal position of body organ

*examples of disorganized morphogenesis

Front 43

T/F: Exposure to tetratogenic influences rarely result in major errors of morphogenesis after the third month of pregnancy?

Back 43

TRUE

Front 44

T/F: Morphologic and Functional consequences can be seen in children exposed to exogenous teratogens during the second and third trimesters

Back 44

TRUE

Front 45

What disease is characterized by neural tube closure resulting in congenital absence of the cranial vault, with cerebral hemispheres completely missing or reduced to small masses at the base of the skull?

Back 45

Anencephaly

Front 46

What is the prognosis for Anencephaly and how can it be screened?

Back 46

most fetuses die in utero and those alive at birth die within a week.

screening for Alpha-Fotoprotein

Front 47

What is the difference between spina bidifa, meningococele, and meningomyelocele?

Back 47

In spina bifida, there is incomplete closure of spinal cord and vertebral column => mild abnormality

In Meningocele, there is a hernial protrusion of MENINGES

in meningomyelocele, the SPINAL CORD is also protruding.

Front 48

What sedative taken during the early stages of pregnancy can cause phocomelia?

Back 48

Thialomide

Front 49

What is the most common cause of acquired mental retardation?

Back 49

Fetal alcohol syndrome

Front 50

Osteogenesis imperfecta is characterized by abnormal synthesis of what protein?

Back 50

Type 1 Collagen

Front 51

T/F: 80% of Osteogenesis Imperfecta cases are Type I; autosomal DOMINANT

Back 51

TRUE

note: Type II - autosomal recessive is most lethal

Front 52

After birth, baby has gross deformities; blue sclera, hearing abnormalities, hypermobile joints and dentinogenesis imperfecta. What disease does it have?

Back 52

Osteogenesis Imperfecta

Front 53

Patients with atubular dentin, discolored teeth prone to fracture, shortened bell-shaped crowns, maloclussions, and impacted first and second molars are characteristic of what disease?

Back 53

Osteogenesis imperfecta

Front 54

What cell is defective in osteopetrosis?

Back 54

Osteoclasts

Front 55

Why is anemia seen in patients with osteopetrosis?

Back 55

Cortical thickening and narrowing of the medullary cavity causes impaired hematopoesis

Front 56

T/F: autosomal recessive form of osteopetrosis is present in adolescence or adulthood with anemia, or no symptoms at all

Back 56

FALSE

Autosomal recessive form is SEVER and FATAL. seen in infants and children. Clinical - anemia, neutropenia, and infection

Bening form is autosomal DOMINANT and it presents in adolesence or adulthood with anemia, or no symptoms at all.

Front 57

What are the dental deformities seen in osteopetrosis?

Back 57

-delayed eruption
- congenital absent teeth
- malformed teeth
-enamel hypoplasia

Front 58

What is the name of a bening hereditary condition of mandible and maxilla that mainly affects the mandible?

Back 58

Cherubism

Front 59

Patient appears with painless symmetric enlargement of posterior region of mandible with expansion of alveolar process and ascending ramus. What is your diagnosis?

Back 59

Cherubism

Front 60

What autosomal dominant disease is characterized by maxillary hypoplasia, high arched plate, shallow orbits with exopthalmus, and strabismus ?

Back 60

Crouzon Syndrome

Front 61

What causes Crouzon syndrome?

Back 61

premature fusion of cranial sutures

Front 62

Severe misrognathia (small mandible) and glossoptosis (tongue that balls up in back of throat) are characteristic of what disease?

Back 62

Pierre robin syndrome

Front 63

What are the most serious pathological changes seen in TORCH -infected children?

Back 63

lesions of the brain