Chapter Five - Hereditary Diseases

Question 1

Deoxyribonucleic Acid (DNA)

Answer 1

Blueprint for protein synthesis

Question 2

Chromosomes

Answer 2

Molecule of DNA; 46 in the body

Question 3

Genes

Answer 3

Found in chromosomes, each responsible for the synthesis of one protein

Question 4

Autosomes

Answer 4

Name for 44 of the 46 chromosomes, does not include sex hormones

Question 5

Alleles

Answer 5

Alternative forms of a gene

Question 6

Homozygous

Answer 6

Having the same 2 alles

Question 7

Dominant

Answer 7

Gene that is expressed when inherited

Question 8

Recessive

Answer 8

Manifests when someone is homozygous for the trait

Question 9

Polydactyly

Answer 9

Autosomal dominant disorder that causes extra fingers or toes

Question 10

Achondroplasia

Answer 10

Autosomal dominant disorder of defective cartilage formation in the fetus

Question 11

Achondroplastic Dwarfism

Answer 11

Condition caused by defective cartilage formation resulting in improper bone development

Question 12

Marfan Syndrome

Answer 12

Autosomal dominant disorder that results from the dysfunction of the gene that codes the connective tissue protein fibrillin

Question 13

Phenylketonuria

Answer 13

Caused by autosomal recessive allele that lacks a specific enzyme, that connects amino acid phenylanine to tyrosine

Question 14

Galactosemia

Answer 14

Autosomal recessive disorder in which the enzyme that converts galactose is lacking

Question 15

Sickle Cell Aneima

Answer 15

Autosomal recessive disorder in which hemoglobin is abnormal resulting in deformed sickle-shaped RBC

Question 16

Tay-Sachs

Answer 16

Autosomal recessive disorder caused by the absense of the Hex A Enzyme

Question 17

Albinism

Answer 17

Recessive disorder, no melanin is formed, white hair, pale skin, and pink eyes

Question 18

Hemophillia

Answer 18

Sex-linked inherited coagulation disorder caused by a deficiency of clotting factors

Question 19

Fragile X Syndrome

Answer 19

Sex linked disorder associated with mental retardation, identified by a break or weakness on the long arm of the X chromosome

Question 20

Down Syndrome

Answer 20

Chromosomal disorder that causes cognitive impairment

Question 21

Nondisjunction

Answer 21

Failure of 2 chromosomes to separate as the gametes

Question 22

Cri du Chat Syndrome

Answer 22

Hereditary disease results from deletion of part of the short arm of chromosome 5

Question 23

Turner’s Syndrome

Answer 23

Condition caused when one sex chromosome is missing resulting in a karyotype of 45 XO

Question 24

Klinefelter’s Syndrome

Answer 24

Condition causing an extra sex chromosome; 47 XXY

Question 25

Hermaphrodites

Answer 25

Individuals with testes and ovaries

Question 26

Aminocentesis

Answer 26

Diagnostic test for hereditary diseases performed on fetal cells

Question 27

Congenital Disease

Answer 27

Appears at birth

Question 28

Chronic Villus Sampling

Answer 28

Genetic testing by removal of cells from the villi through the cervix

Question 29

Heterozygous

Answer 29

When alleles are different

Question 30

Color Blindness

Answer 30

Inability to distinguish between colors, sex-linked disorder