344 chapter 6 and 11

Question 1

refers to different forms or DNA sequences that a gene may have in a population

Answer 1

allele

Question 2

single gene defects follow the ___ pattern of inheritance

Answer 2

mendelian

Question 3

when a person inherits a dominant mutant gene but fails to express it, the trait is described as having reduced

Answer 3

penetrance

Question 4

autosomal dominant disorders also can display variable ___, meaning that they can be expressed differently by different people

Answer 4

variability

Question 5

genetic disorder can be caused by a single gene (aka ___) or multiple genes (aka ___)

Answer 5

mendelian

polygenic

Question 6

in single gene disorders the defective gene may by on an autosome or on the __ chromosome

Answer 6

autosome or X chromosome

Question 7

single gene disorders may be expressed as a __ or __ trait

Answer 7

dominant or recessive

Question 8

In an __ dominant disorder, a single mutant allele from an affected parent is transmitted to an offspring

Answer 8

autosomal

Question 9

In an autosomal dominant disorder, a single mutant allele from an affected parent is transmitted to an offspring regardless of

Answer 9

sex

Question 10

In an autosomal dominant disorder, the affected parent has a __ % change of passing it to each child

Answer 10

50%

Question 11

autosomal ___ disorders are manifested only when both members of the gene pair are affected

Answer 11

recessive

Question 12

in autosomal ___ disorders, usually both parents are unaffected but are carries of the defective gene

Answer 12

recessive

Question 13

in autosomal recessive disorders the chances of passing it to the child are

Answer 13

25%

Question 14

sex linked disorders are associated with the __ chromosome

Answer 14

X

Question 15

sex-linked disorders are those in which an unaffected mother carries one normal and one ___ allele on the X chromosome

Answer 15

mutant

Question 16

in sex-linked disorders the mother has a 50% change of passing it to her sons and daughters. The sons are affected and the daughters are

Answer 16

carriers

Question 17

an inherited form of mental retardation that results from a repeating sequence of 3 nucleotides

Answer 17

fragile X

Question 18

because they have a high need for energy, the nervous system, heart, and muscles are effected in this disorder

Answer 18

mitochondrial DNA disorders

Question 19

cleft lip is a m___ inheritance disorder

Answer 19

multifactorial

Question 20

chromosomal disorders result from a change during

Answer 20

meiosis

Question 21

a change in chromosome number

Answer 21

aneuploidy

Question 22

the presence of only one member of a chromosome pair

Answer 22

monosomy

Question 23

syndrome where there is monosomy in the X chromosome in a female

Answer 23

Turner Syndrome

Question 24

refers to the presence of more than 2 chromosomes in a set, as occurs in Klinefelter Syndrome

Answer 24

polysomy

Question 25

An example of Trisomy 21, which is the most common disorder of the autosomal chromosome

Answer 25

Down Syndrome

Question 26

the baby's most vulnerable time is 15 to __ days after conception

Answer 26

60

Question 27

a deficiency in __ __ can contribute to neural tube defects

Answer 27

folic acid

Question 28

deficiency in __ can cause congenital hypothyroidism and impaired neuro development

Answer 28

iodine

Question 29

impaired neuro development is aka

Answer 29

cretinism

Question 30

prenatal test, used for determining fetal size and position and for the presence of structural abnormalities

Answer 30

ultrasound

Question 31

test used to assess down syndrome and neural tube defects

Answer 31

maternal blood screening

Question 32

procedure used to obtain specimens for study

Answer 32

amniocentesis, chorionic villus sampling, precutaneous umbical blood sampling

Question 33

the hematopoietic system consists of the different types of blood cells generated from the __ stem cells

Answer 33

pluripotent

Question 34

the pluripotent stem cells in the __ marrow

Answer 34

bone marrow

Question 35

the development of the different kinds of blood cells is supported by growth factors, chemical mediators, and __ __ factors

Answer 35

colony stimulating factors

Question 36

WBC arise from m___ stem cells

Answer 36

myeloid

Question 37

the paracortex (area between the medullary and outer superficial cortices) of the lymph node contains

Answer 37

t cells

Question 38

b cells are in which part of the lymph node

Answer 38

cortex

Question 39

the __ follicles in lymph nodes have active germinal centers

Answer 39

secondary

Question 40

neoplastic disorders of hematopoietic and lymphoid origin include the leukemias, lymphomas, and multiple ___

Answer 40

myeloma

Question 41

a malignant neoplasm arising from the transformation of a single blood cell line

Answer 41

leukemia

Question 42

leukemia involves hematopoietic stem cells in the __ __

Answer 42

bone marrow

Question 43

because leukemic cells are immature and poorly differentiated, they multiply quickly and have a __ life span

Answer 43

long

Question 44

messed up kind of cell that interferes with the maturation of normal blood cells, cross the BBB, and infiltrate organs

Answer 44

leukemic cells

Question 45

leukemias are classified according to their cell type, ___ or ___ and according to whether it's acute or chronic

Answer 45

lymphocytic or myelocytic

Question 46

The ___ leukemias involve immature lymphocytes and their progenitors that originate in the bone marrow but infiltrate other tissue

Answer 46

lymphocytic leukemias

Question 47

The ___ leukemias involve the pluripotent myeloid stem cells in the bone marrow and interfere with the maturation of all blood cells

Answer 47

myelogenous

Question 48

__ leukemias have a sudden and stormy onset

Answer 48

acute leukemias

Question 49

symptoms of depressed bone marrow function, bone pain, splenomegaly, hepatomegaly

Answer 49

acute leukemias

Question 50

__ leukemia, mostly affects adults and has an insidious onset

Answer 50

chronic

Question 51

malignant neoplasms that arise in the peripheral lymphoid tissues

Answer 51

non-hodgkin and hodgkin lymphoma

Question 52

lymphoma that originates in the lymph nodes, is multicentric in origin and spread early to various tissue (esp liver, spleen, and bone marrow)

Answer 52

non-hodgkin lymphoma

Question 53

a group of cancers characterized by Reed-Sternberg cells that begins as a malignancy in a single lymph node and then spreads to contiguous lymph nodes

Answer 53

hodgkin lymphoma

Question 54

both types of lymphomas are characterized by manifestations related to uncontrolled lymph node and lymphoid tissue growth, bone marrow involvement, fever, fatigue, weight loss

Answer 54

hodgkin and non-hodgkin

Question 55

a plasma cell dyscrasia characterized by expansion of a single clone of Ig-producing plasma cells and a resultant increase in serum levels of a single monoclonol Ig

Answer 55

multiple myeloma

Question 56

the main sites involved in multiple myeloma are the __ and bone marrow

Answer 56

bone

Question 57

in multiple myeloma, in addition to the abnormal proliferation of marrow plasma cells, there is activation of __ which leads to bone reabsorption

Answer 57

osteoclasts

Question 58

because of increased osteoclast activity, there's increased risk for fractures and hypercalcium in this disease

Answer 58

multiple myeloma

Question 59

in this disease, you can have hyperviscosity causing heart failure and neuropathy

Answer 59

multiple myeloma

Question 60

Marfan syndrome is what type of disorder

Answer 60

autosomal dominant

Question 61

syndrome where the fibers of the heart valves and blood vessels are impaired

Answer 61

Marfan syndrome

Question 62

myopia, skeletal deformities (chest and spine) long arms, hyper flexible, heart valve/blood vessel problems

Answer 62

marfan syndrome

Question 63

neurofibromatosis is what type of disorder

Answer 63

autosomal dominant

Question 64

disorder where tumors arise is schwann cells and the rest of the peripheral nervous system

Answer 64

neurofibromatosis

Question 65

subcutaneous lesions, large tumors, cafe au lait spots, scoliosis, facial disfigurement, overgrowth of a limb, learning disability, abnormal speech

Answer 65

neurofibromatosis

Question 66

phenylketonuria (PKU) is what kind of disorder

Answer 66

autosomal recessive

Question 67

Tay-Sachs disease is what kind of disorder

Answer 67

autosomal recessive

Question 68

disease where the lysosomes don't work properly

Answer 68

tay-sachs

Question 69

signs of impaired brain, seizures, decreased pigment, eczema, retardation

Answer 69

PKU

Question 70

progressive destruction of neurons in the brain and retina

Answer 70

tay-sachs

Question 71

infants have progressive weakness, decreased mental function, seizures, poor vision, death at 4 to 5 years old

Answer 71

tay-sachs

Question 72

analysis of blood for the enzyme hexosamidase can show that someone is a genetic carrier for this disease (if they are low in the enzyme)

Answer 72

tay-sachs

Question 73

intellectual disability, large face, mitral valve prolapse

Answer 73

fragile x syndrome

Question 74

cleft palate is what kind of disorder

Answer 74

multifactorial inheritance

Question 75

mitotic errors during cleavage of the fertilized ovum or in somatic cells give rise to 2 or more cell lines characterized by distinctive kryoptypes

Answer 75

mosaicism

Question 76

women: short stature but normal body proportions, no ovaries or secondary sex characteristics, heart problems, neck web

Answer 76

Turner syndrome

Question 77

men: testicular dysgenesis, extra X chromosome, tall, feminine traits

Answer 77

klinefelter syndrome

Question 78

a decrease in the absolute number of leukocytes in the blood

Answer 78

leukopenia

Question 79

in __ anemia, all the myeloid stem cells are affected, resulting in anemia, lack of thrombocytes, lack of neutrophils

Answer 79

aplastic anemia

Question 80

severe congenital neutropenia

Answer 80

kostmann syndrome

Question 81

primary pathogen-fighting cells

Answer 81

Neutrophils

Question 82

help control allergic responses; fight parasites

Answer 82

Eosinophils

Question 83

release heparin, histamine, and other inflammatory mediators

Answer 83

Basophils

Question 84

Mutation of myeloid cell line results in ___ ___

Answer 84

Myelocytic Leukemias

Question 85

Overproduction of abnormal monocytes or granulocytes is associated with ___ Leukemias

Answer 85

Myelocytic Leukemias

Question 86

in Hodgkin lymphoma, Malignant _ cells invade lymphoid organs

Answer 86

B

Question 87

Myeloma is characterized by abnormal __ cells that can form tumors

Answer 87

B

Question 88

X or Y chromosome

Answer 88

sex-linked

Question 89

Other chromosomes besides X or Y

Answer 89

autosomal

Question 90

In this disorder a single mutant allele from an affected parent is transmitted to an offspring regardless of sex

Answer 90

Autosomal Dominant

Question 91

If all your copies of a gene (alleles) are alike, you are

Answer 91

homozygous

Question 92

If your copies of a gene (alleles) are different you are

Answer 92

heterozygous

Question 93

If you have only one copy of a gene, you are

Answer 93

hemizygous

Question 94

If you have the allele with intermediate penetrance for a trait, do you display the trait?

Answer 94

sometimes

Question 95

chromosomal damage, occurs when there are simultaneous breaks in 2 chromosomes from different pairs, with exchanging of chromosome parts.

Answer 95

translocation

Question 96

chromosomal damage, occurs when the chromosome separates horizontally instead of vertically

Answer 96

isochromosome

Question 97

the only type of chromosome damage where the child is still normal because no DNA was actually lost

Answer 97

translocation

Question 98

a chance in the number of chromosomes

Answer 98

aneuploidy

Question 99

the presence of only 1 member of a pair of chromosomes

Answer 99

monosomy

Question 100

fragile x syndrome involves ___ disability

Answer 100

intellectual

Question 101

the mitochondrial myopathies are often associated with the so called __ __ fibers

Answer 101

ragged red