Chapter 2 Flashcards

Question

spontaneous mutation

Answer 1

when genes change their form for no known reason.

Answer 2

a disorder produced by the presence of an extra chromosome on the twenty-first pair; once referred to as mongolism.

Answer 3

a disorder produced by injury to a gene on the X chromosome, producing mild to moderate mental retardation.

Answer 4

a blood disorder that gets its name from the shape of the red blood cells in those who have it.

Answer 5

a disorder that produces blindness and muscle degeneration prior to death; there is no treatment.

Answer 6

a disorder resulting from the presence of an extra X chromosome that produces underdeveloped genitals, extreme height, and enlarged breasts.

Answer 7

the discipline that focuses on helping people deal with issues relating to inherited disorders.

Answer 8

a process in which high-frequency sound waves scan the mother’s womb to produce an image of the unborn baby, whose size and shape can then be assessed.

Answer 9

a test used to find genetic defects that involves taking samples of hair-like material that surrounds the embryo.

Answer 10

Combines a blood test and ultrasound sonography in the eleventh to thirteenth week of pregnancy and can identify chromosomal abnormalities and other disorders, such as heart problems.

Answer 11

the process of identifying genetic defects by examining a small sample of fetal cells drawn by a needle inserted into the amniotic fluid surrounding the unborn fetus.

Answer 12

Alzheimer’s disease - Late-onset variety of senile dementia Amyotrophic lateral sclerosis (Lou Gehrig’s disease) - Progressive motor function loss leading to paralysis and death Breast and ovarian cancer (inherited) - Early-onset tumors of breasts and ovaries Charcot–Marie–Tooth - Loss of feeling in ends of limbs Cystic fibrosis - Thick mucus accumulations in lungs and chronic infections in lungs and pancreas Duchenne muscular dystrophy (Becker muscular dystrophy) - Severe to mild muscle wasting, deterioration, weakness Dystonia - Muscle rigidity, repetitive twisting movements Fragile X syndrome - Mental retardation Hemophilia A and B - Bleeding disorders Hereditary nonpolyposis colon cancera - Early-onset tumors of colon and sometimes other organs Huntington’s disease - Progressive neurological degeneration, usually beginning in midlife Myotonic dystrophy - Progressive muscle weakness Neurofibromatosis, type 1 - Multiple benign nervous system tumors that can be disfiguring; cancers Phenylketonuria - Progressive mental retardation due to missing enzyme; correctable by diet Sickle-cell disease - Blood cell disorder, chronic pain and infections Spinal muscular atrophy - Severe, usually lethal progressive muscle-wasting disorder in children Tay-Sachs disease - Seizures, paralysis, fatal neurological disease of early childhood

Answer 13

to ensure that their next child would be free of Fanconi anemia. With PGD, a newly fertilized embryo can be screened for a variety of genetic diseases before it is implanted in the mother’s uterus to develop

Answer 14

In which cells are taken from an embryo and then replaced after the defective genes they contain have been repaired.

Answer 15

patterns of arousal and emotionality that represent consistent and enduring characteristics in an individual.

Answer 16

the determination of traits by a combination of both genetic and environmental factors in which a genotype provides a range within which a phenotype may be expressed.

Answer 17

At least in part. There’s increasing research evidence suggesting that some of our most basic personality traits have genetic roots. For example, two of the key “Big Five” personality traits, neuroticism and extroversion, have been linked to genetic factors. Neuroticism, as used by personality researchers, is the degree of emotional stability an individual characteristically displays. Extroversion is the degree to which a person seeks to be with others, to behave in an outgoing manner, and generally to be sociable.

Answer 18

social potency (the tendency to be a masterful, forceful leader who enjoys being the center of attention) and traditionalism (strict endorsement of rules and authority) are strongly associated with genetic factors. Even less basic personality traits are linked to genetics. For example, political attitudes, religious interests and values, and even attitudes toward human sexuality have genetic components

Answer 19

the process by which a sperm and an ovum—the male and female gametes, respectively—join to form a single new cell.

Answer 20

the first—and shortest—stage of the prenatal period, which takes place during the first two weeks following conception.

Answer 21

a conduit between the mother and fetus, providing nourishment and oxygen via the umbilical cord.

Answer 22

the period from two to eight weeks following fertilization during which significant growth occurs in the major organs and body systems.

Answer 23

The outer layer of the embryo which will form teeth, hair, skin, sense-organs, and the brain and spinal cord

Answer 24

The inner layer of the embryo which will produce the digestive system, liver, pancreas, and respiratory system.

Answer 25

The layer between endoderm and exoderm. It will form muscles, bones, blood, and circulatory system.

Answer 26

the stage that begins at about eight weeks after conception, and continues until birth.

Answer 27

a developing child, from eight weeks after conception until birth.

Answer 28

the inability to conceive after 12 to 18 months of trying to become pregnant.

Answer 29

a process of fertilization in which a man’s sperm is placed directly into a woman’s vagina by a physician.

Answer 30

a procedure in which a woman’s ova are removed from her ovaries and a man’s sperm are used to fertilize the ova in a laboratory.

Answer 31

known as a spontaneous abortion— occurs when pregnancy ends before the developing child is able to survive outside the mother’s womb. The embryo detaches from the wall of the uterus and is expelled. They are usually attributed to some sort of genetic abnormality

Answer 32

when the mother voluntarily chooses to terminate the pragnency.

Answer 33

an environmental agent that produces a birth defect.

Answer 34

a disorder caused by the pregnant mother consuming substantial quantities of alcohol during pregnancy, potentially resulting in mental retardation and delayed growth in the child.

Answer 35

a condition in which children display some, though not all, of the problems of fetal alcohol syndrome due to the mother’s consumption of alcohol during pregnancy.